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dyscephalia mandibulooculofacialis

 

Definition: a syndrome of bony anomalies of the calvaria, face, and jaw, with brachygnathia, narrow curved nose, and multiple ocular defects including microphthalmia, microcornea, and cataract, often with alopecia overlying cranial sutures, or alopecia areata, or absence of eyebrows. The pattern of inheritance is undecided.

Synonym(s): Hallermann-Streiff syndrome, Hallermann-Streiff-François syndrome, mandibulooculofacial syndrome, oculomandibulodyscephaly, oculomandibulofacial syndrome, progeria with cataract, progeria with microphthalmia

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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