Syndrome of ankylosis, facial anomalies and pulmonary hypoplasia

Abstract

A newly recognized syndrome, with a pattern of malformations (fixation of joints, facial anomalies, and pulmonary hypoplasia) is reported from Zambia Central Africa in an African child. Additional features of deafness and cataract are included in the congenital abnormalities and it is suggested that a form of gentic abnormality is responsible for this condition.