Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome

H P Freihofer; S Walji; H G Brunner

Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome

Am J Med Genet. 1997 Jun 13;70(3):211-5.

Authors

H P Freihofer¹, S Walji, H G Brunner

Affiliation

¹ Department of Oral and Maxillofacial Surgery, University Hospital Nijmegen, The Netherlands.

PMID: 9188655

Abstract

A 13-year-old mentally retarded girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and ectodermal dysplasia is presented. We conclude that the pattern of malformations described represents a new multiple malformation syndrome. A comparison with Zlotogora-Ogür syndrome is presented.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology*
Adolescent
Bone and Bones / abnormalities
Bone and Bones / diagnostic imaging
Cleft Lip / pathology*
Cleft Palate / pathology*
Ectodermal Dysplasia / pathology*
Female
Humans
Intellectual Disability / pathology*
Radiography
Skin Abnormalities
Syndactyly / diagnostic imaging
Syndactyly / pathology*
Syndrome