Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.
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.
Blanchet
P
P
Unité fonctionnelle de Foeto-Pathologie et de Génétique Médicale, Hôpital Arnaud-de-Villeneuve, Montpellier.
Lefort
G
G
Eglin
M C
MC
Rieu
D
D
Sarda
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000025:Abortion, Eugenic; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006554:Hernia, Umbilical / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D014034:Toes / Q000002:abnormalities; D014960:X Chromosome