Family Resource Network
Genet Couns 1993;4(4):289-94
Multiple congenital anomalies associated with an
oto-palato-digital syndrome type II.
Blanchet P, Lefort G, Eglin MC, Rieu D, Sarda P.
Unite fonctionnelle de Foeto-Pathologie et de Genetique Medicale, Hopital Arnaud-de-Villeneuve,
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
PMID: 8110417 [PubMed - indexed for MEDLINE]