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Karsch‐Neugebauer syndrome: split foot/split hand and congenital nystagmus
Author(s) -
Pilarski Robert T.,
Pauli Richard M.,
Bresnick George H.,
Lebovitz Ruth M.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00191.x
Subject(s) - foot (prosody) , nystagmus , medicine , physical medicine and rehabilitation , audiology , philosophy , linguistics
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.