Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.
作者信息
Blanchet P, Lefort G, Eglin M C, Rieu D, Sarda P
机构信息
Unité fonctionnelle de Foeto-Pathologie et de Génétique Médicale, Hôpital Arnaud-de-Villeneuve, Montpellier.
出版信息
Genet Couns. 1993;4(4):289-94.
PMID:8110417
Abstract
We report the case of a male fetus with an oto-palato-digital (OPD) type II syndrome and multiple congenital anomalies (MCA) including omphalocoele, hypospadias, thoracic dysplasia, skeletal abnormalities, pulmonary hypoplasia and an absent right adrenal gland. These MCA are sometimes reported in Melnick-Needles syndrome, which leads us to discuss the possibility that the spectrum of malformations in these two syndromes might be due to two allelic forms of the same X-linked gene.
摘要
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引用本文的文献
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A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.
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