New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
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.
Tsukahara
M
M
School of Allied Health Sciences, Yamaguchi University, Japan. masato@po.cc.yamaguchi-u.ac.jp
Sugio
Y
Y
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome