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  • Title: New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
    Author: Tsukahara M, Sugio Y.
    Journal: J Hum Genet; 1998; 43(4):224-7. PubMed ID: 9852671.
    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.
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