Szymanski Kathryn,  Arnold Cerys,  Dhatt Jovan,  Pfeifer Cory

Final Pr. ID: Poster #: CR-031

Kenny Caffey syndrome type 2 (KCS2) is a rare genetic syndrome affecting the bones, causing cortical thickening and medullary stenosis of tubular bones. Additional findings include short stature, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Here we discuss a case of this rare disease. The patient was a 4-year-old male with history of intrauterine growth restriction, poor natal growth with relative macrocephaly, and abnormal skeletal findings. Genetic testing revealed a de novo variant of the FAM111A gene, most consistent with Kenny-Caffey syndrome type 2. The patient was followed in the bone dysplasia clinic and was noted to have growth delay (height < 1 percentile, z-score = -6 SD) and poor weight gain. Labs showed low IGF-1 (z-score = -2.5 SD), and growth hormone stimulation test revealed a peak of 9.8 ug/L. MR brain (age 4 years) showed 1) borderline Chiari I malformation, 2) small globes, 3) partially empty, shallow sella, and 4) enlarged posterior ventricular atria. Our patient demonstrated intracranial findings that may be unique when compared to the literature and/or related to the patient's skeletal abnormalities. As KCS2 is a rare disorder, diagnosis may be difficult. The findings presented in this case offer insight into both typical and novel findings that may aid in diagnostic accuracy and undoubtedly warrant further investigation. Read More

Authors:  Szymanski Kathryn , Arnold Cerys , Dhatt Jovan , Pfeifer Cory

Keywords:  Kenny Caffey Syndrome