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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: April 20, 1998 / Accepted: May 23, 1998
Rights and permissions
About this article
Cite this article
Tsukahara, M., Sugio, Y. New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation. J Hum Genet 43, 224–227 (1998). https://doi.org/10.1007/s100380050077
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050077