Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: case report of a subject with Adams-Oliver syndrome

ABSTRACT

Terminal transverse anomalies of digits and congenital scalp defects can occur as separate entities. Both these malformations may accompany each other in a rare hereditary condition called Adams-Oliver syndrome [AOS; OMIM 117600]. AOS is a heterogeneous anomaly which shows occasional involvement of cardio-vascular, pulmonary and frontonasal systems. Additionally, the clinical overlap with other well-characterized malformations like Poland syndrome, cutis marmorata telangiectatica congenita, and aplasia cutis congenita, makes its diagnosis challenging and may compromise accurate genetic counseling and risk estimation. We report a sporadic male child from Southern Punjab, Pakistan in which the phenotypic presentation is consistent with AOS. He had bilateral and asymmetrical terminal deficiency of fingers, symbrachydactyly with anonychia of toes, and aplasia cutis congenita of the scalp. There were no symptoms of any other organ system. We present detailed clinical study with differential diagnosis of AOS