Delleman–Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report:

Background:Delleman–Oorthuys syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital anomaly with ocular, cerebral and cutaneous manifestations. So far, only 40 cases have been described.Clinical case:A 3-year-old female Nigerian child with no identifiable left eyeball, multiple left-sided facial skin defects and delayed developmental milestones but otherwise uneventful medical and family history was evaluated at the Ophthalmology and Paediatric Neurosurgery in Ibadan, Nigeria. Besides the mentioned defects that were present since birth, brain imaging revealed several brain abnormalities including intracranial cysts. Global hyperreflexia and bilateral flexor plantar response were observed upon clinical examination. Left micro-ophthalmia and orbital mass were detected. A histological assessment of the orbital mass revealed it to be rudimentary ocular tissue. The diagnosis of Delleman–Oorthuys syndrome was made based on the clinico-radiological features. The patient underwent a left-sid...