ISSN:
1435-232X
Keywords:
Key words Dominant inheritance
;
Facial abnormality
;
Mental retardation
;
Microcephaly
;
Micromelia
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract We report on three brothers, aged 6, 3, and 2 years, with a hitherto undescribed combination of microcephaly, facial abnormalities, micromelia, and mild mental retardation. Their facial abnormalities included a forehead with bitemporal constriction, upslanting palpebral fissures, synophrys, a short nose with anteverted nostrils, a short columella, a cupid bow-shaped, thin vermilion border of the upper lip, and micrognathia. Their mother had similar clinical manifestations, but was of normal intelligence. The disease was apparently transmitted in a dominant fashion.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050077
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