Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.
We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.
Petit
P
P
Centre for Human Gentics, University of Leuven, Belgium.
Moerman
P
P
Legius
E
E
Fryns
J P
JP
D000025:Abortion, Eugenic; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D018191:Lymphangioma, Cystic / Q000175:diagnosis / Q000235:genetics*; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal