Literature DB >> 3978843

Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus.

R T Pilarski, R M Pauli, G H Bresnick, R M Lebovitz.   

Abstract

A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch-Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorder.

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Year:  1985        PMID: 3978843     DOI: 10.1111/j.1399-0004.1985.tb00191.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease.

Authors:  Deepika Khurana; Madhangi Sri Balasubramaniyan; Sheetal Hastak; Anjali Chandrasekharan
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

2.  An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies.

Authors:  Veerabadran Mahesh Mathian; Allagappan Meenakshi Sundaram; Ramachandran Karunakaran; Rangasamy Vijayaragavan; Selvaraj Vinod; Ramachandran Rubini
Journal:  J Pharm Bioallied Sci       Date:  2012-08
  2 in total

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