Transverse Limb Defects Associated with Vascular Abnormalities: Atypical Presentation of Adams-Oliver Syndrome? A.S. Teebi¹, N. Al-Sannaa¹, I. Adatia². 1) Pediatrics & Genetics, Hosp Sick Children, Toronto, ON, Canada; 2) Cardiology & Critical Care Medicine, Hospital for Sick Children, Toronto, ON, Canada.

   Adams-Oliver syndrome (AOS) is a well-recognized entity that associates cutis aplasia congenita with terminal transverse limb defects and other anomalies. Poland sequence has been considered part of a spectrum having the same pathogenesis. Wide intrafamilial and interfamilial variability was noted. Over the last decade, there has been a surge of publications documenting the association of vascular and cardiac anomalies in AOS. It was estimated that congenital cardiac malformations are present in about 20% of all AOS patients. If the association of the other vascular anomalies were considered, it would appear that this group of anomalies represents an important component of the syndrome. We report a 4 years old boy with terminal transverse limb defects associated with primitive persistence of primitive aorto-pulmonary vascular connections leading to supra-systemic pulmonary artery pressure. This patient did not display the other manifestation of AOS like cutis aplasia congenita or Poland sequence and the family history is negative for that type of anomalies. Based on the association of vascular anomalies as an emerging component of Adams-Oliver Syndrome, we suggest that this patient is an example of AOS with atypical presentation.