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New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation (1998)

Tsukahara, M. ; Sugio, Yoshitsugu

Springer

Journal of human genetics 43 (1998), S. 224-227

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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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