Karsch-Neugebauer syndrome in two sibs with unaffected parents

We report on 2 sisters with Karsch‐Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal...

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Bibliographic Details
Published in:American journal of medical genetics 1998-01, Vol.75 (2), p.207-210
Main Authors: Wong, S.C., Cobben, J.M., Hiemstra, S., Robinson, P.H., Heeg, M.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Biological and medical sciences
Child, Preschool
Complex syndromes
congenital nystagmus
Female
Foot Deformities, Congenital - genetics
genetic counseling
Hand Deformities, Congenital - genetics
Humans
Karsch-Neugebauer syndrome
lobster claw
Male
Medical genetics
Medical sciences
Middle Aged
monodactyly
Mosaicism
Nystagmus, Pathologic - congenital
Nystagmus, Pathologic - genetics
Pedigree
split hand/split foot
Syndrome
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Summary:We report on 2 sisters with Karsch‐Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formally excluded, most evidence suggests that Karsch‐Neugebauer syndrome is an autosomal dominant disorder. If so, then this report of 2 affected sibs born to healthy parents is the second instance of apparent gonadal mosaicism in this disorder. The apparent high frequency of gonadal mosaicism is important to recognize in counseling families with this disorder. Am. J. Med. Genet. 75:207–210, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980113)75:2<207::AID-AJMG18>3.0.CO;2-T