| 释义 |
oculomandibulodyscephaly dys·ce·pha·li·a man·di·bu·lo·oc·u·lo·fa·ci·a·lis [MIM*234100] 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 microphthalmiadys·ce·pha·li·a man·di·bu·lo·oc·u·lo·fa·ci·a·lis (dissĕ-fālē-ă man-dibyū-lō-okyū-lō-fāshē-ālis) [MIM*234100] Syndrome of bony anomalies of the calvaria, face, and jaw, with brachygnathia, narrow curved nose, and multiple ocular defects including microphthalmia, micro-cornea, and cataracts.
Synonym(s): oculomandibulo-dyscephaly, oculomandibulofacial syndrome. |