PMID: 11343342May 9, 2001Paper

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay

American Journal of Medical Genetics
F Bacha, J J Hoo

Abstract

A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

References

Jan 1, 1992·American Journal of Medical Genetics·M A Nance, S A Berry
Dec 25, 1991·American Journal of Medical Genetics·M M Cohen
Mar 1, 1991·Pediatric Dermatology·P CollinsM McCabe
Jul 1, 1990·Journal of Medical Genetics·M O'Callaghan, I D Young
Apr 1, 1989·Archives of Dermatology·A J Badame
Jun 1, 1985·Journal of Medical Genetics·E Thompson, M Pembrey

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