Main Logo
Logo

Society for Pediatric Radiology – Poster Archive

  141
  0
  0
 
 


Final ID: Poster #: CR-011

Antenatal and postnatal imaging of Hallermann-Streiff syndrome: two cases

Purpose or Case Report: Hallermann-Streiff syndrome (HSS) is a very rare congenital disorder associated with characteristic head and face abnormalities include bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and many ophthalmic disorders. Many patients die during infancy because of life-threatening complications, such as respiratory and cardiac problems.

Methods & Materials: Case 1. Male baby (gestational age 36+6 weeks, birth weight 2,100 g) was transferred to NICU due to intrauterine growth restriction (IUGR) and abnormal looking face. Family history and maternal history were non-specific. Micro- and brachycephaly with left parietal cephalhematoma, 4 cm sized large anterior fontanel with wide separation of sutures, sparse hair, prominent forehead, microophthalmia with cataract, beak like nose tip, blue colored skin around the nose, low set ear, retro-, and micrognathia, three natal teeth, small mouth, and chubby cheek, small testis and both simian hands with pointed finger were shown.

Case 2. Female baby (geatational age 32+6 weeks, birth weight 1,750 g) was admitted due to respiratory distress and dysmorphic feature compatible with HSS.

Results: Case 1. Antenatal ultrasonography at 36 weeks of gestation, short and thin long bones, prominent forehead, and small nose with chubby cheek were noted. Postnatal radiologic studies showed thin tubular bones, small and flatted vertebral bodies, and pathologic fracture of left proximal radius. Skull X-ray and cranial CT showed widely opened fontanelle with sutures, flattened parietal bone, mid-facial hypoplasia and left parietal cephalhematoma without other intracranial abnormalities. Chromosomal microarray was non-specific. Follow up 9 months of age, he showed failure to thrive and delayed motor development.

Case 2. Antenatal ultrasonography at 29 weeks of gestation, short long bone and IUGR were noted. Postnatal radiologic studies showed thin clavicle, ribs, vertebrae and tubular bone (hands and feet), and pathologic fractures of both proximal radius. On day 43 of life, head and neck CT showed widely opended fontanelle, thin parietal bone and maxillary hypoplasia, scanty subcutaneous fat tissue. Chromosomal microarray was non-specific. The patient was died on 49 days of life due to cardiorespiratory failure.


Conclusions: HSS can be diagnosed by characteristic clinical feature with antenatal ultrasonography and postnatal radiologic findings.
  • Choi, Young-youn  ( Chonnam Univeristy Medical School & Hospital , Gwangju , Korea (the Republic of) )
Session Info:

Electronic Exhibits - Case Reports

Fetal Imaging / Neonatal

Scientific Exhibits - Case Reports

More abstracts on this topic:
A rare cause of spinal canal stenosis in a child with neurofibromatosis type I

Chen Alan, Kucera Jennifer

Congenital portosystemic venous shunts: intrahepatic and extrahepatic anatomical variants

Plut Domen, Zupancic Ziva, Mali Brajovic Senja, Kljucevsek Tomaz, Tomazic Mojca, Glusic Mojca, Homan Matjaz

Preview
Poster____CR-011.pdf
You have to be authorized to contact abstract author. Please, Login or Signup.

Please note that this is a separate login, not connected with your credentials used for the SPR main website.

Not Available