Adams-Oliver syndrome associated with gastrointestinal malformations.

To cite: van Geyzel L, Gribbon C, Bradley S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-217959 DESCRIPTION A male infant presented with drooling of saliva at birth. There was an antenatal history of polyhydramnios. Oesophageal atresia and tracheoesophageal fistula (OA/TOF) were confirmed by the coiled nasogastric tube on chest X-ray. Skin was persistently marbled, regardless of temperature, in keeping with cutis marmorata telangiectatica congenita (CMTC). The second to fifth toes were absent bilaterally; the left great toe hypoplastic (figure 1). Dilated tortuous veins and areas of absent skin, aplasia cutis congenita (ACC), were evident on the scalp (figure 2). Atrial septal defect was identified on echocardiogram and tortuous retinal vascular pattern on ophthalmology review. Parents were non-consanguineous, but father also had oligodactyly. VACTERL association was considered; however, the characteristic findings led to a diagnosis of Adams-Oliver syndrome (AOS). Surgical repair of OA/TOF was performed on day 2. Contrast study for feed intolerance demonstrated duodenal stenosis requiring duodenoduodenostomy. AOS is rare, with an incidence of 1 in 225 000. ACC and terminal limb defects are typical. CMTC and cardiac malformations are common (20%), while ophthalmological abnormalities occur in <10%. Neurological deficits are uncommon, but more severe vascular phenotypes may have developmental problems and seizures. Different inheritance patterns are described; autosomal dominant likely in this case in view of paternal history. DNA analysis of the six known AOS genes (found in 50% AOS cases) was negative. Physical findings may vary in families due to variable expressivity. This is the first published case of AOS occurring with OA/TOF and duodenal stenosis which may be incidental or an as yet unrecognised association.