Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová
Čes-slov Pediat 2004; (6): 296-299.
Hallermann-Streiff-Francois syndrome of oculomandibulodyscephaly is apparent at birth due to multipleanomalies with wide phenotypic variability. The familial occurrence was described in siblings as well as inconsecutive generations, but usually occurs sporadically. Sex ratio is normal. The determination is considered infresh dominant mutation of postzygotic origin. Intelligence is normal but shortness of stature and facial dysmorphymay impair psychologic adjustment. The features are brachycephaly with frontal and pariental bossing, bird-likeface due to beaked nose and hypoplastic mandibula, microphthalmia, cataract, delayed ossification and closure ofthe fontanells and sutures. Signal sign is hypoplasia of the rami mandibuli and anterior displacement of thetemporomandibular joint. Stature is proporcional small, hypogenitalism in boys and muscle hypotonia withvertebral anomalies could be features. The patients should be control by ophthalmologist, stomatologist, ortopedist,during infancy respiratory and feeding problems are uncommon. Here is refered 5-year-old boy with mildmanifestation of Hallermann-Streiff-Francois syndrome and is compared his fenotype with the features in other5 patients.
Hallermann-Streiff-Francois syndrome, oculomandibulodyscephaly, short proportional stature,normal inteligence, fresh dominant mutation postzygotic
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