Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect

P Petit; P Moerman; E Legius; J P Fryns

Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect

Genet Couns. 1994;5(4):381-5.

Authors

P Petit¹, P Moerman, E Legius, J P Fryns

Affiliation

¹ Centre for Human Gentics, University of Leuven, Belgium.

PMID: 7888142

Abstract

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.

Publication types

Case Reports

MeSH terms

Abortion, Eugenic
Adult
Cervical Vertebrae / abnormalities*
Cervical Vertebrae / diagnostic imaging
Cleft Palate / diagnosis
Cleft Palate / genetics*
Ectromelia / diagnosis
Ectromelia / genetics*
Female
Fingers / abnormalities
Fingers / diagnostic imaging
Head and Neck Neoplasms / diagnosis
Head and Neck Neoplasms / genetics*
Humans
Lymphangioma, Cystic / diagnosis
Lymphangioma, Cystic / genetics*
Pierre Robin Syndrome / diagnosis
Pierre Robin Syndrome / genetics*
Pregnancy
Pregnancy Trimester, Second*
Prenatal Diagnosis*
Radiography
Radius / abnormalities*
Radius / diagnostic imaging
Ribs / abnormalities*
Ribs / diagnostic imaging
Ultrasonography, Prenatal