Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies.
A pre-term infant was born with multiple limb and craniofacial anomalies, including craniosynostosis and a nasopharyngeal adenohypophysis. Severe hydrocephalus of the lateral and third ventricles was attributed to cerebral aqueductal dysgenesis. Scattered aqueductules and ependymal rosettes were found throughout the midbrain and pontine tegmentum. An hypothesis to explain the unique constellation of craniocerebral findings is discussed.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D003398:Craniosynostoses / Q000473:pathology*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010903:Pituitary Gland, Anterior / Q000002:abnormalities