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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528

Resumo

HERREROS, MB; ATOBE, O  e  RODRIGUEZ, S. Prenatal diagnosis of ectrodactyly in two siblings. Mem. Inst. Investig. Cienc. Salud [online]. 2005, vol.3, n.1, pp.65-67. ISSN 1812-9528.

Ectrodactyly is a rare congenital malformation characterized by absence of digits and has a wide variety of expression. This anomaly can be sporadic or associated with various genetic and non-genetic syndromes such as the autosomal dominant Ectrodactyly and the Ectrodactyly and Ectodermal Dysplasia, Cleft Palate Syndrome (EEC). In this report, we present the cases of two brothers with a prenatal diagnosis of ectrodactyly by ultrasound in the second trimester of both pregnancies. The first pregnancy ended in the stillbirth of a male fetus with ectrodactyly of both hands and feet and stenosis of the umbilical cord. The second pregnancy resulted in the delivery of a boy with left hand agenesis and right hand and feet ectrodactyly. We highlight the importance of routine and thorough examination of fetal hands and feet during the second trimester ultrasound to make a better and more frequent diagnosis of hand and foot malformations.

Palavras-chave : Eectrodactylyb; Prenatal diagnosis; Ultrasound.

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