Adams-Oliver Syndrome: Limited Expression

Excerpt

A one-year-old boy presented with concerns of absent scalp hair growth over the vertex from early infancy. He was a term born, first child of a non-consanguineous couple, with an unremarkable antenatal and perinatal period. At birth, parents had noticed, large, raw-wet, discolored areas over the scalp covering almost entire vertex. Some patches had few hairs while, others had no hair. Over the first four months of life, the scalp lesions healed with scarring. His developmental milestones were age-appropriate and the family history was non-contributory. On examination, the child weighed 9.4 kg (60th Centile), length 70 cm (3rd Centile) and head circumference of 46 cm (75th Centile). Examination of the skull showed a vertex with areas of skin hypopigmentation, alopecia, scarring and crust formation (scab) (Fig. 1a); suggestive of aplasia cutis congenita (ACC). No underlying calvarial bone defects were palpable. Examination of left foot showed, small second to fourth toes. In addition, nails of the affected toes were hypoplastic (Fig. 1b). Right foot was normal. All these features were suggestive of transverse terminal toe deficiencies (TTD). In view of ACC of the scalp and TTD, a clinical diagnosis of Adams-Oliver syndrome (AOS) was considered. Multisystem screening (Ultrasound abdomen and kidneys; Echocardiography; Skeletal survey; Eye examination) was unremarkable.

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