Saez Fermin,  Vazquez Victor,  Saez Javier,  Pijoan Jose

Final Pr. ID: Poster #: SCI-036

To assess the relevance of asymmetrical skin folds as a clinical sign for the diagnosis of developmental dysplasia of the hip (DDH). Read More

Authors:  Saez Fermin , Vazquez Victor , Saez Javier , Pijoan Jose

Keywords:  developmental dysplasia of the hip, hip ultrasound screening, hip dysplasia

Mahalingam Neeraja,  Bates Alister,  Higano Nara,  Gunatilaka Chamindu,  Woods Jason,  Somasundaram Elanchezhian

Final Pr. ID: Poster #: SCI-010

To develop an optimized AI model to automatically segment lung volumes from pulmonary magnetic resonance images (MRI) and generate tidal volume calculations for neonatal patients with chronic lung disease of prematurity (bronchopulmonary dysplasia, BPD). Read More

Authors:  Mahalingam Neeraja , Bates Alister , Higano Nara , Gunatilaka Chamindu , Woods Jason , Somasundaram Elanchezhian

Keywords:  Bronchopulmonary Dysplasia, MRI, Deep Learning

Scace Candace,  Poletto Erica,  Kazmi Faaiza,  Mallon Mea,  Malik Archana,  Urbine Jaqueline

Final Pr. ID: Poster #: EDU-012

A working knowledge of skull base anatomy as well as an understanding of the many lesions encountered in the developing calvarium is a challenging topic for the pediatric radiologist. The spectrum of lesions is vast and includes benign, benign but locally aggressive, and malignant lesions. The purpose of this presentation is to review the imaging findings associated with benign and malignant skull base lesions in children, while discussing their differentiating features. Read More

Authors:  Scace Candace , Poletto Erica , Kazmi Faaiza , Mallon Mea , Malik Archana , Urbine Jaqueline

Keywords:  calvarium, fibrous dysplasia, cholesterol granuloma

Loomis Judyta,  Bulas Dorothy,  Rubio Eva,  Blask Anna

Final Pr. ID: Poster #: EDU-112

The purpose of this case series is to describe the variable prenatal presentation of lethal and nonlethal hypophosphatasia, obstetrical outcomes, and postnatal course of the nonlethal cases.

5 genetically proven cases of hypophosphatasia were evaluated in our fetal imaging center from 2009 to 2016 and initially imaged between 17 weeks and 34 weeks gestation. The prenatal imaging, prenatal testing, pregnancy outcome, and postnatal or autopsy imaging and genetic testing are reviewed in this case series.

All 5 cases were referred with a high suspicion of a skeletal dysplasia. Fetal sonography demonstrated a spectrum of bowing, shortening, and acute fractures of the long bones, variable involvement of the upper and lower extremities, and axial skeleton involvement.
Of the 5 cases, 3 were nonlethal. Postnatal imaging in these cases was concordant with the prenatal assessment of variable mild limb shortening and bowing and without involvement of the axial skeleton.
Case 4 was terminated at 20 weeks due to severe micromelia and irregular long bones with postmortem radiographs demonstrating shortening and fractures with severe demineralization of the skull.
Case 5, first evaluated at 29 weeks gestation demonstrated severe bowing and shortening of the long bones, a small chest circumference with beading of the ribs. Postnatal radiographs demonstrated spurs in the midshafts of the fibula and ulna with severely demineralized skull. The infant died in the immediate postnatal period. Read More

Authors:  Loomis Judyta , Bulas Dorothy , Rubio Eva , Blask Anna

Keywords:  dysplasia, Fetal, skeletal

Parnell Shawn

Final Pr. ID: Poster #: EDU-080

The skeletal dysplasias are a large diverse group of several hundred disorders which are marked by abnormal bone and cartilage growth with resultant short stature. Dysplasias have been divided into larger groups according to common radiographic and/or genetic mutations. The purpose of this educational exhibit is to highlight one of these major groups, which are characterized by mutations of type 2 collagen. Read More

Authors:  Parnell Shawn

Keywords:  skeletal dysplasia, musculoskeletal, type 2 collagen, skeletal survey, dwarfism

Tan Timothy Shao Ern,  Teo Eu Leong Harvey James

Final Pr. ID: Poster #: EDU-062

Bone dysplasias comprise a group of congenital disorders characterized by anomalies in the development or texture of bone and cartilage, which can cause significant morbidity and mortality. Achondroplasia is the commonest bone dysplasia associated with rhizomelic dwarfism and is non-lethal. Other commonly encountered bone dysplasias include pseudoachondroplasia, hypochondroplasia, the mucopolysaccharidoses as well as disorders of disorganized bone development (i.e. diaphyseal aclasia, Trevor disease, enchondromatosis) and of abnormal bone density (i.e osteogenesis imperfecta, osteopetrosis, osteopoikilosis, osteopathia striata and melorheostosis).

The radiological diagnosis of bone dysplasias relies heavily on pattern recognition of established skeletal changes, which is often made on plain radiographs or skeletal survey. Whilst the radiographic features of bone dysplasias are generally well described in the axial and appendicular skeleton, its appearances in the lower limb, particularly of the foot and ankle, are usually less conspicuous compared to the rest of the skeleton. Moreover, the radiographic features may also overlap between dysplasia subtypes or mimic metabolic conditions. As such, accurate detection of these features can be challenging. Hence, knowledge and recognition of the radiographic features of bone dysplasias and its mimics presenting in the foot and ankle is crucial in aiding timely diagnosis, especially when interpreted together with other skeletal changes occurring elsewhere. Moreover, as bone dysplasias may be associated with other congenital disorders, radiologists play an essential role in directing further investigations for definitive diagnosis.

Thus, the purpose of this educational exhibit is to review and familiarize radiologists with the radiographic features and pattern recognition of commonly encountered bone dysplasias occurring in the paediatric foot and ankle, so as to guide appropriate management, aimed at preventing disabling deformities.The radiographic features of the above conditions presenting in the paediatric foot and ankle will be discussed and illustrated. Read More

Authors:  Tan Timothy Shao Ern , Teo Eu Leong Harvey James

Keywords:  Bone Dysplasia, Foot, Ankle

Ratnayake Charith,  Subramanian Subramanian,  Narayanan Srikala,  Gaesser Jenna

Final Pr. ID: Poster #: CR-023

We present novel brain MRI findings in 2 children presenting with seizures due to TMCO1 mutation. Both children had absent olfactory bulbs and olfactory tracts and hippocampal malrotation. EEG demonstrated right temporal slow waves and intermittent focal slowing. One child had pontine hypoplasia, hypoplasia of bilateral optic nerves/chiasm, and an absent right cochlear nerve. In both children, there was increased mineralization in bilateral globi pallidi and bilateral substantia nigra on SWI sequence, possibly from excessive calcium. Ventriculomegaly and cavum septum pellucidum were also present in both children. Spine MRI revealed segmentation abnormalities including partial fusion of T2/T3 vertebral bodies and fusion of the posterior elements of T3-T5. Both children exhibited dysplastic and bifid ribs, demonstrating partial posterior fusion. Right renal agenesis was also noted in one child.

TMCO1 mutation results in cerebro-facio-thoracic dysplasia (CFTD) due to abnormal calcium homeostasis. The transmembrane and coiled-coil domains 1 protein directs formation of endoplasmic reticulum calcium leak channels which facilitate calcium leak upon overload of the endoplasmic reticulum. Failure of calcium leak results in abnormal cell function resulting in delayed osteogenesis, reduced mitochondrial volume, reduced mitochondrial respiration, and decreased endoplasmic reticulum stress mediated apoptosis. These children have distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. Previous studies have demonstrated only mild ventriculomegaly, corpus callosum abnormalities, frontotemporal atrophy, and three cases of associated epilepsy. Olfactory bulb agenesis may be due to abnormal development of the cribriform plate of the ethmoid and failure of olfactory nerves to induce development of the olfactory bulb from the telencephalon. We demonstrate that TMCO1 may play a more extensive and previously undescribed role in neurodevelopment, specifically in the formation of the hippocampus, optic nerve, and pons. Read More

Authors:  Ratnayake Charith , Subramanian Subramanian , Narayanan Srikala , Gaesser Jenna

Keywords:  Pediatric, Dysplasia, MRI

Cho Yeon Jin,  Park Hyoung Suk,  Jeon Kiwan,  Choi Young Hun,  Choi Gayoung,  Lee Seul Bi,  Lee Seunghyun,  Cheon Jung-eun,  Kim Woo Sun,  Ryu Young Jin,  Hwang Jae-yeon

Final Pr. ID: Paper #: 060

The purpose of this study was to develop a convolutional neural network (CNN)-based deep learning algorithm for the automated detection of developmental dysplasia of the hip (DDH) on conventional radiography and to assess its feasibility and diagnostic performance. Read More

Authors:  Cho Yeon Jin , Park Hyoung Suk , Jeon Kiwan , Choi Young Hun , Choi Gayoung , Lee Seul Bi , Lee Seunghyun , Cheon Jung-eun , Kim Woo Sun , Ryu Young Jin , Hwang Jae-yeon

Keywords:  Artificial intelligence, Developmental dysplasia of the hip, Conventional radiography

Diederichs Chad,  Heath Alana,  Mabee Myles,  Hareendranathan Abhilash,  Zonoobi Dornoosh,  Thompson Adrienne,  Jaremko Jacob

Final Pr. ID: Poster #: SCI-042

Developmental dysplasia of the hip (DDH) is a common congenital problem affecting up to 3% of the the population. If untreated, DDH may lead to hip dislocation and premature osteoarthritis. Current DDH diagnosis is highly operator-dependent as it relies on 2D ultrasound. 3D ultrasound offers more complete, and potentially more reliable, imaging of infant hip geometry. However, it is unclear whether 3D ultrasound images, noisy with artifacts and reconstructed by proprietary algorithms from non-parallel beams, give accurate 3D shape information. We sought to validate the fidelity of acetabular surface models obtained by 3D ultrasound by comparison with those obtained concurrently from MRI. Read More

Authors:  Diederichs Chad , Heath Alana , Mabee Myles , Hareendranathan Abhilash , Zonoobi Dornoosh , Thompson Adrienne , Jaremko Jacob

Keywords:  DDH, 3D ultrasound, MRI, pediatric radiology, hip dysplasia

Wepking Kelly,  Gill Kara,  Riedesel Erica

Final Pr. ID: Poster #: CR-068

Currarino’s Syndrome (CS) is a unique form of caudal regression syndrome characterized by triad of sacral dysplasia, anorectal malformation, and presacral mass. Additional congenital malformations of the genitourinary tract and spine may be present.

Currarino's Syndrome has a variety of clinical presentations - from asymptomatic to severe chronic constipation - depending on associated malformations. Early identification and adequate treatment prevents eventual serious complications.

Plain radiograph of the sacrum is the first diagnostic step. Ultrasound or pelvic/spinal MRI is used to better evaluate for presacral mass. Fluoroscopic enema studies may be used for further evaluation of anorectal malformation. Additional imaging of the GU tract with US and VCUG is suggested due to risk for associated GU anomaly or vesicoureteral reflux.

We present two cases of Currarino’s Syndrome which demonstrate classic imaging findings on plain film radiograph, ultrasound, and MRI.

Case 1 presented in infancy with severe chronic constipation. Abdominal radiograph demonstrated classic "scimitar" sacrum. Fluoroscopic enema demonstrated high grade anal stenosis. US and MRI of the spine and sacrum revealed large anterior sacral meningocele.

Case 2 presented at birth with imperforate anus. Abdominal radiograph demonstrated classic "scimitar" sacrum. MRI of the spine and sacrum revealed small anterior sacral meningocele. Additional GU anomalies were discovered including vesicoureteral reflux and uterine didelphis. Read More

Authors:  Wepking Kelly , Gill Kara , Riedesel Erica

Keywords:  Currarino's Triad, Sacral dysplasia, Presacral mass, Anorectal malformation, Case Report

Gongidi Preetam,  Chauvin Nancy,  Ho-fung Victor,  Maya Carolina

Final Pr. ID: Poster #: EDU-056

Dysplasia epiphysialis hemimelica (DEH), also known as Trevor’s disease, is a rare developmental bone disease which typically involves the epiphyseal cartilage of the lower extremities. The disease is characterized by abnormal overgrowth which may lead to progressive limb deformity and gait dysfunction. Imaging is crucial in the diagnosis and the appearance maybe confused with other musculoskeletal dysplasias. This exhibit will review the pathogenesis of DEH and highlight the characteristic imaging features using multiple modalities. Read More

Authors:  Gongidi Preetam , Chauvin Nancy , Ho-fung Victor , Maya Carolina

Keywords:  Trevor's, Dysplasia epiphysialis hemimelica, Trevors

Smith Crysela,  Sundarakumar Dinesh,  Maravilla Kenneth

Final Pr. ID: Poster #: EDU-131

Imaging features and evaluation of focal cortical dysplasias (FCDs). Read More

Authors:  Smith Crysela , Sundarakumar Dinesh , Maravilla Kenneth

Keywords:  focal cortical dysplasia, epilepsy

Drocton Gerald,  Dobbs-desilet Debbie,  Kubendran Shobana,  Ali Kamran,  Zarchan Adam,  Spranger Jurgen,  Schaefer Bradley

Final Pr. ID: Poster #: CR-030

Abstract

We present a case of IMAGe syndrome in a newborn patient and review the associated abnormalities with emphasis on the radiologic findings.

IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenital (AHC) and genitourinary abnormalities. Image syndrome is caused by a CDKN1C mutation only if the mutation is present on a maternally inherited copy of the gene.

The clinical features of AHC and IUGR with or without a family history of IMAGe syndrome are highly suggestive of the diagnosis. The skeletal findings may include metaphyseal and/or epiphyseal dysplasia, osteopenia, gracile long bones, mesomelia, and delayed bone age. Genital abnormalities are common in males and include unilateral or bilateral cryptorchidism and hypospadias. Facial features include mild frontal bossing, flat or broad nasal bridge, and small or low set ears.

A Caucasian male was born at 38 weeks gestation to nonconsanguineous healthy parents. Prenatal ultrasound imaging demonstrated IUGR. The infant was small for gestational age with a birth weight of 2390 grams (4.5 percentile). On clinical exam, the patient demonstrated simian creases, hypospadias, and undescended testicles. Phenotypically, the patient demonstrated findings more severe than hypochondroplasia but less prominent than achondroplasia. Facial features included micrognatia, a high-arched palate, and mild frontal bossing. The skeletal findings on imaging consisted of thin gracile ribs, markedly delayed bone maturation, and irregular distal femoral metaphyseal margins. The distal femoral metaphyses also demonstrated a celery stalk appearance. Pelvic findings included triangular ischia, unossified pubic bones, and irregular acetabular roofs. The case is particularly unique in that the patient also presented with rhizomelia of the bilateral humeri; a finding which has not been previously described with IMAGe syndrome to the authors’ knowledge.

The patient experienced episodes of hyponatremia, hyperkalemia, and decreased cortisol levels consistent with primary adrenal insufficiency. Genetic testing detected a mutation in the CDKN1C gene. The patient’s mother was detected to carry the same mutation, thereby confirming the inheritance pattern and confirming the diagnosis of IMAGe syndrome in the patient.

IMAGe syndrome is rare. Only 25 individuals with a clinical and/or molecular diagnosis have been reported to date. Read More

Authors:  Drocton Gerald , Dobbs-desilet Debbie , Kubendran Shobana , Ali Kamran , Zarchan Adam , Spranger Jurgen , Schaefer Bradley

Keywords:  congenital, dysplasia

Averill Lauren,  Tomatsu Shunji,  Theroux Mary

Final Pr. ID: Poster #: CR-044

Morquio A syndrome is an autosomal recessive lysosomal storage disorder characterized by skeletal dysplasia and progressive disability due to orthopedic complications, spinal cord compression and airway compromise. Although the bony changes and cervical spine instability have been well described in the radiology literature, the importance of imaging the airway in these patients has received scant attention. The purpose of this poster is to illustrate the progressive abnormality of the thoracic inlet and trachea seen in children and young adults with Morquio A syndrome.
The interplay of pectus carinatum, hypertrophied clavicular heads and upper thoracic kyphosis leads to bony narrowing of the thoracic inlet. Furthermore, glycosaminoglycan deposition degrades the structural integrity of the tracheal wall, creating a twisted and floppy airway. Additional crowding by a crossing tortuous right brachiocephalic artery and sometimes the thyroid gland contribute to progressive narrowing of the trachea at the thoracic inlet. Imbalance of growth between the skeleton and the airway and blood vessels may also play a role.
We present a series of patients with Morqiuo A syndrome, with multimodality imaging depicting the complex anatomy of the thoracic inlet contributing to airway compromise. Radiographs of the neck, chest or spine can suggest airway narrowing with a tilted hourglass shape of the trachea seen in the frontal projection; lateral views, though, are often limited. MRI of the cervical spine, frequently acquired to evaluate the craniocervical junction, also allows for assessment of the thoracic inlet including the trachea and crossing right brachiocephalic artery. CT angiogram of the chest can more clearly delineate vascular, bony and airway relationships in individuals with declining respiratory function or unexpected airway difficulty during anesthetic management. Three dimensional rendering and airway fly-through techniques may help guide anesthetic care and, in extreme cases, airway reconstruction. The imaging features of the thoracic inlet in this group of Morquio A patients are correlated with clinical phenotype, pulmonary function tests, and bronchoscopy when available. Read More

Authors:  Averill Lauren , Tomatsu Shunji , Theroux Mary

Keywords:  trachea, skeletal dysplasia, brachiocephalic artery

Parikh Ashishkumar,  Luo Yu,  Spottswood Stephanie

Final Pr. ID: Poster #: CR-036

First described by Rathbun in 1948, hypophosphatasia is an inherited metabolic disorder arising from the deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. There are several different types and varying clinical presentations of hypophosphatasia, characterized according to their age of onset by Fraser in 1957. In addition, the severity of the radiographic findings is inversely correlated with the age of presentation, with older patients presenting with less severe forms of the disease. Classically, the radiographic findings resemble rickets/osteomalacia, but in the presence of normal Vitamin D metabolism. Additional findings associated with hypophosphatasia are Bowdler spurs, which are transverse bony spurs in the radius, fibula and ulna and central lucencies or “punched out” lesions in the metaphysis, particularly of the knee (Case 1). In this case series of 3 patients, these characteristic radiographic features as depicted on skeletal surveys, along with their clinical manifestations, diagnostic criteria, management, treatment, and prognosis will be discussed. In particular, the evolution of radiographic changes with treatment in one patient will be assessed (Case 2). Read More

Authors:  Parikh Ashishkumar , Luo Yu , Spottswood Stephanie

Keywords:  hypophosphatasia, skeletal dysplasia, phosphate, hypophosphatemia, Bowdler

Watal Pankaj,  Priya Sarv,  Sato T Shawn,  Bathla Girish

Final Pr. ID: Poster #: EDU-069

1. Review of structural and metabolic imaging findings across various classes of FCD based on recent ILAE classification.
2. Review of correlation between imaging findings and pathologic features in different FCD groups. Read More

Authors:  Watal Pankaj , Priya Sarv , Sato T Shawn , Bathla Girish

Keywords:  focal cortical dysplasia, FCD

Pérez-marrero Lizbet,  Monardez Pamela,  Besomi Javier,  Switt Margarita,  Avilés Carolina,  Herrera Cristhián,  Fuentealba Isabel,  Pose Georgette,  Silva Claudio

Final Pr. ID: Paper #: 004 (S)

Se realiza en Chile tamizaje universal de displasia de cadera (DDC) con radiografía de pelvis AP (Rx Pelvis) a los 3 meses de edad, sin embargo no hay una estandarización del informe radiológico para una correcta y óptima derivación al especialista.
Objetivo: Estandarizar y validar el informe de la Rx pelvis usada en el tamizaje de la DDC. Read More

Authors:  Pérez-marrero Lizbet , Monardez Pamela , Besomi Javier , Switt Margarita , Avilés Carolina , Herrera Cristhián , Fuentealba Isabel , Pose Georgette , Silva Claudio

Keywords:  Screening, Developmental Dysplasia of the Hip, HIRADS

Defendi Larissa,  Sameshima Yoshino,  Lee Henrique,  Naves Erica,  Ribeiro Suheyla,  Yamanari Maurício,  Neto Miguel José,  Queiroz Marcos

Final Pr. ID: Poster #: EDU-059

McCune Albright syndrome (MAS) is a rare disease with a broad spectrum of clinical manifestations that may include café-au-lait macules, hyperfunctioning endocrinopathies and fibrous dysplasia. The latter is an uncommon and debilitating skeletal disorder that leads to fractures, deformity, functional impairment and pain. Since bone imaging provides essential data for diagnosis, prognosis evaluation and follow-up, the radiologist plays a crucial role at all steps of MAS management – and sometimes becomes the first health professional to assess non-skeletal associated conditions in routine exams.

The present study proposes a practical approach for imaging McCune Albright syndrome. The main findings on various imaging modalities will be discussed according to their topography, bringing together relevant information to enhance the diagnostic, prognostic and follow-up procedures.

Case material from our institution will be used to illustrate the following topics:
1. Brief review of MAS pathophysiology;
2. Clinical features and differential diagnosis of MAS;
3. MAS and polyostotic fibrous dysplasia;
4. Craniofacial fibrous dysplasia: imaging features, prognosis and follow-up;
5. Role of various imaging methods in non-skeletal manifestations. Read More

Authors:  Defendi Larissa , Sameshima Yoshino , Lee Henrique , Naves Erica , Ribeiro Suheyla , Yamanari Maurício , Neto Miguel José , Queiroz Marcos

Keywords:  Fibrous Dysplasia

Amaral Jason,  Schultz Rebecca,  Rosenfeld Scott,  Kan J.

Final Pr. ID: Poster #: EDU-067

This technical innovation describes our institution’s standardized technique for palliative steroid injections in children with symptomatic neuromuscular hip dysplasia. Children with neuromuscular hip dysplasia are at risk for developing painful hip dislocation, which can dramatically affect their quality of life. Read More

Authors:  Amaral Jason , Schultz Rebecca , Rosenfeld Scott , Kan J.

Keywords:  Hip Dysplasia, Cerebral Palsy, Steroid Injection

Miyazaki Osamu,  Sawai Hideaki,  Yamada Takahiro,  Murotsuki Jun,  Horiuchi Tetsuya,  Nishimura Gen

Final Pr. ID: Poster #: SCI-014

Fetal CT has almost the same utility as a postnatal skeletal survey. Despite this benefit, the associated radiation exposure is disadvantageous and radiation dose reduction is mandatory. It is however impossible to measure the actual radiation dose to the fetus directly. Several previous reports have described the CT dose index (CTDI) volume and dose length product (DLP) as representing an imagined fetal dose. The actual fetal radiation dose needs to be confirmed using a phantom that practically corresponds to a pregnant woman. Read More

Authors:  Miyazaki Osamu , Sawai Hideaki , Yamada Takahiro , Murotsuki Jun , Horiuchi Tetsuya , Nishimura Gen

Keywords:  skeletal dysplasia, fetal CT, radiation dose

Motta Giovanna,  Chiovatto Alessandra,  Chiovatto Eduardo,  Rocha Lucas,  Abdala João,  Iared Wagner

Final Pr. ID: Poster #: SCI-004 (S)

Developmental dysplasia of the hip (DDH) is the designation given to a spectrum of structural changes in the developing hip. Ultrasound is the preferred imaging method for screening this condition in newborns and children under 1 year old. Pubofemoral distance (PFD) has been proposed as a new screening method for developmental dysplasia of the hip. The aim of this study is to assess the accuracy of PFD for developmental dysplasia of the hip using the Graf method as reference standard. Read More

Authors:  Motta Giovanna , Chiovatto Alessandra , Chiovatto Eduardo , Rocha Lucas , Abdala João , Iared Wagner

Keywords:  Ultrasound, Hip dysplasia, Pubofemoral distance

Handa Atsuhiko,  Nishimura Gen

Final Pr. ID: Poster #: EDU-058

A term “ciliopathy” represents a diverse group of genetic disorders caused by mutations in genes coding for components of the primary cilia. Primary cilia have a pivotal biological role in the cell surface of nearly every organ system of the body. "Skeletal ciliopathy" is a subset of ciliopathy mainly affecting the skeleton and shares common radiological findings such as short ribs, short limbs, and short digits with or without polydactyly. Pattern recognition approach is thus useful to diagnose skeletal ciliopathy. Skeletal ciliopathy includes (1) Jeune asphyxiating thoracic dysplasia, (2) Ellis-van Creveld syndrome (chondroectodermal dysplasia), (3) Sensenbrenner syndrome (cranioectodermal dysplasia), and (4) Short rib-polydactyly syndromes. Clinically, affected patients commonly present with thoracic hypoplasia with respiratory failure and disproportional stature with a normal trunk and short limbs most severe in the distal segments. Brachydactyly is conspicuous. Patients may have extra-skeletal anomalies such as retinopathy, cardiac anomalies, cerebellar malformations, and hepatorenal failures.
Radiological diagnosis of bone dysplasia might be regarded as something complex. We aim to highlight a pattern recognition approach to diagnose skeletal ciliopathies, one of the major bone dysplasias, by providing many cases. We will also review a general concept of "bone dysplasia family" which refers to a grouping of radiologically similar skeletal disorders into a “family.” This concept has been widely accepted now after we found that phenotypic similarities usually indicate the same/similar pathogenetic mechanisms, and it supports the use of a pattern recognition approach. Imaging diagnosis can guide genetic testing, interpretation, and possibly identify new genes or mutations. Read More

Authors:  Handa Atsuhiko , Nishimura Gen

Keywords:  Bone Dysplasia, Ciliopathy

Handa Atsuhiko,  Nishimura Gen

Final Pr. ID: Poster #: EDU-034

Skeletal dysplasias encompass a heterogeneous group of over 400 disorders. They are individually rare, but collectively common with an approximate incidence of 1/5000; thus, radiologists occasionally encounter skeletal dysplasias in daily practice. However, many radiologists and trainees struggle with this topic because of the lack of proper resources.

A group of skeletal dysplasias that share similar radiological patterns has been grouped into a “skeletal dysplasia family” which generally have common pathogenesis. For example, a skeletal dysplasia family comprising mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis all radiologically exhibit dysotosis multiplex, and all share an abnormality in lysosome dysfunction.

The beauty of this family concept is its simplicity and power. First, it allows a more systematic approach to the chaotic world of skeletal dysplasias – a stepwise approach, with the first step of general pattern recognition and categorization of a certain case into a certain family, and the second step of diagnosis based on more meticulous observations for subtle but distinctive radiological findings. Since major skeletal dysplasia families are limited in number, the radiologist can become familiar with their patterns. Second, radiographs can predict the presence of genetic mutations. Geneticists or pediatricians would appreciate the correct radiological diagnosis even in today’s genetics practice with advanced molecular techniques. Radiological diagnosis and genetics are complementary. Third, it may lead us to a more precise assessment of radiological findings. Shared findings among family members allow more accurate characterization of the severest end of the family which occasionally look similar to the one with different pathogenesis.

The purpose of this exhibit is to demonstrate the imaging characteristics of major skeletal dysplasia families and the stepwise approach to the diagnosis. We will review the classic and more recently established dysplasia families. In addition, we will review clinical and genetic features that help radiologists to participate in multidisciplinary care.

Introduction – Dysostosis multiplex family – FGFR3 (achondroplasia) family – COMP family – Type II collagenopathies – TRPV4 (metatropic dysplasia) family – Skeletal ribosomopathies – DTDST (diastrophic dysplasia) family – Linkeropathies – Filaminopathies A and B – Punctata group – Skeletal ciliopathies – Osteogenesis imperfecta group Read More

Authors:  Handa Atsuhiko , Nishimura Gen

Keywords:  Skeletal dysplasia

Kozak Brandi,  Chauvin Nancy,  Sankar Wudbav,  Back Susan

Final Pr. ID: Poster #: EDU-017 (T)

Evaluating the alignment and blood flow in the femoral head in patients with congenital hip dysplasia following reduction is essential to the treatment of dysplastic hips. Current practice involves an immediate postoperative contrast enhanced MRI of the casted child to identify hips that may be at risk for avascular necrosis. Contrast enhanced ultrasound (CEUS) is an emerging imaging modality that is feasible to evaluate the perfusion of the cartilaginous proximal femoral epiphysis intraoperatively, after hip reduction and prior to spica casting. This educational exhibit describes the procedure of intraoperative CEUS of the hip from the sonographers’ perspective. Read More

Authors:  Kozak Brandi , Chauvin Nancy , Sankar Wudbav , Back Susan

Keywords:  Ultrasound, Contrast, Hip Dysplasia

Motta Giovanna,  Chiovatto Alessandra,  Chiovatto Eduardo,  Rocha Lucas,  Abdala João,  Iared Wagner

Final Pr. ID: Poster #: EDU-014 (S)

Hip ultrasonography is now considered the main method for screening, diagnosing and monitoring the treatment of development dysplasia of hip (DDH) in children, considering the advantages of the method and the excellent characterization of the anatomical elements of the infant hip which, at this stage of life, consists largely of cartilage. In 1980, Reinhard Graf, an Austrian pediatric orthopedist published child hip study work from about 20,000 stillbirths. He evaluated and studied through hip ultrasound the hip joint and determined in a single coronal section the hip classification. The purpose of this article is to explain in a didactic and detailed way the method of Graf, focusing on the reference points for its realization and proper interpretation. Read More

Authors:  Motta Giovanna , Chiovatto Alessandra , Chiovatto Eduardo , Rocha Lucas , Abdala João , Iared Wagner

Keywords:  Hip Dysplasia, Ultrasonography, Graf Method

Vu John,  Parsons Matthew,  Zei Markus,  Sharma Aseem

Final Pr. ID: Poster #: SCI-057

Detection of focal cortical dysplasias (FCDs) can be challenging. Our aim was to evaluate quantitative contrast differences between FCDs and the mirror-location normal gray matter, and the effect thereof on the ease of detection by radiologists.
Read More

Authors:  Vu John , Parsons Matthew , Zei Markus , Sharma Aseem

Keywords:  Focal Cortical Dysplasia, Machine based correlative enhancement, Contrast to Noise

Gunatilaka Chamindu,  Bates Alister,  Higano Nara,  Hahn Andrew,  Fain Sean,  Hysinger Erik,  Fleck Robert,  Woods Jason

Final Pr. ID: Paper #: 035

Tracheomalacia (TM) is a common morbidity associated with prematurity and manifests as dynamic collapse of the trachea lumen due to cyclic changes of intrathoracic pressure during breathing. Premature infants often have elevated work of breathing (WOB) related to their distal, small airway and lung abnormalities. The large airway contribution to WOB can be determined using computational fluid dynamics (CFD), which is a well-known technique to calculate the resistance and WOB in the human airway. However, previous studies are based on static airway geometry without motion. Using the novel technique of ultrashort echo time (UTE) magnetic resonance imaging (MRI), the tidal volume and airway motion can be used to create a dynamic model for use in CFD. Our aim is to calculate the estimated WOB in a dynamic trachea with neonatal TM compared with a stable, static trachea.
Read More

Authors:  Gunatilaka Chamindu , Bates Alister , Higano Nara , Hahn Andrew , Fain Sean , Hysinger Erik , Fleck Robert , Woods Jason

Keywords:  Bronchopulmonary Dysplasia, MRI, Prematurity