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Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.
Genet Couns. 1993; 4(4):289-94.GC

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.

Authors+Show Affiliations

Blanchet P
Unité fonctionnelle de Foeto-Pathologie et de Génétique Médicale, Hôpital Arnaud-de-Villeneuve, Montpellier.
Lefort G
No affiliation info available
Eglin MC
No affiliation info available
Rieu D
No affiliation info available
Sarda P
No affiliation info available

MeSH

Abnormalities, MultipleAbortion, EugenicEar, ExternalFacial BonesFemaleFingersHernia, UmbilicalHumansInfant, NewbornMaleOsteochondrodysplasiasPregnancySex Chromosome AberrationsSkullSyndactylyToesX Chromosome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8110417

Citation

Blanchet, P, et al. "Multiple Congenital Anomalies Associated With an Oto-palato-digital Syndrome Type II." Genetic Counseling (Geneva, Switzerland), vol. 4, no. 4, 1993, pp. 289-94.
Blanchet P, Lefort G, Eglin MC, et al. Multiple congenital anomalies associated with an oto-palato-digital syndrome type II. Genet Couns. 1993;4(4):289-94.
Blanchet, P., Lefort, G., Eglin, M. C., Rieu, D., & Sarda, P. (1993). Multiple congenital anomalies associated with an oto-palato-digital syndrome type II. Genetic Counseling (Geneva, Switzerland), 4(4), 289-94.
Blanchet P, et al. Multiple Congenital Anomalies Associated With an Oto-palato-digital Syndrome Type II. Genet Couns. 1993;4(4):289-94. PubMed PMID: 8110417.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple congenital anomalies associated with an oto-palato-digital syndrome type II. AU - Blanchet,P, AU - Lefort,G, AU - Eglin,M C, AU - Rieu,D, AU - Sarda,P, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 289 EP - 94 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 4 IS - 4 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8110417/Multiple_congenital_anomalies_associated_with_an_oto_palato_digital_syndrome_type_II_ DB - PRIME DP - Unbound Medicine ER -