Ablepharon-macrostomia syndrome

Abstract

Ablepharon-macrostomia syndrome is an extremely rare congenital disorder apparent at birth. To our knowledge, this is a first case report in an Ethiopian family. The present case manifested unusual clinical features, which are important for better understanding of the cases. A 12-hour male neonate was born on 16, February 2017 from a 40 years old para-gravida and IX at gestational age of 41 weeks + 3 days. This male neonate with Ablepharon-macrostomia syndrome revealed dysmorphic features with absence of eyelids, eyelash and eyebrow. The neonate had an injected and opaque sclera. Bilateral eyeballs were extruded outside of eye socket. The neonate had aflat nasal bridge, deformed low-settled ears and wide "fish-like" mouth. In addition to previously reported cases of Ablepharon-macrostomia syndrome, the present case has wide anterior fontanel and suture lines with dilated 3rd and 4th ventricle (hydrocephalus). Moreover, he has a bilateral medially rotated foot, and absent prepuce and granular hypospadias. The present Ablepharon-macrostomia syndrome case is the first report from an Ethiopian non-consanguineous family with additional unusual features.