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Am J Med Genet A. 2005 Sep 1;137A(3):288-91.

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.

Author information

  • 1Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. mlmartinez.frias@isciii.es

Abstract

A second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup-shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30-33), although with variable expressivity.

(c) 2005 Wiley-Liss, Inc.

PMID:
16088912
[PubMed - indexed for MEDLINE]
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