Waardenburg syndrome and myelomeningocele in a family

We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

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Bibliographic Details
Published in:Journal of medical genetics 1993-01, Vol.30 (1), p.83-84
Main Authors: Chatkupt, S, Johnson, W G
Format: Article
Language:English
Subjects:
Biological and medical sciences
case reports
Child, Preschool
Chromosomes, Human, Pair 2
Family Health
Female
Hair Diseases - complications
Hair Diseases - genetics
Hearing Disorders - complications
Hearing Disorders - genetics
Humans
Male
Malformations of the nervous system
man
Medical sciences
Meningomyelocele - complications
Meningomyelocele - genetics
myelomeningocele
Neurology
Pedigree
Waardenburg syndrome
Waardenburg Syndrome - complications
Waardenburg Syndrome - genetics
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Description
Summary:We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.30.1.83