Daughter and her mildly affected father with Keipert syndrome.
Am J Med Genet A. 2006 Nov 15; 140(22):2488-92.AJ

Abstract

A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.

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Authors+Show Affiliations

Dumic M
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia. drdumic@mef.hr
Kokic DD
No affiliation info available
Matic T
No affiliation info available
Potocki K
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildCraniofacial AbnormalitiesFemaleFinger PhalangesGenes, DominantHearing Loss, SensorineuralHumansLimb Deformities, CongenitalPedigreePhenotypeSyndromeToe Phalanges

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17036315