Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus
| Autor: | George H. Bresnick, Robert Pilarski, Ruth M. Lebovitz, Richard M. Pauli |
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| Rok vydání: | 2008 |
| Předmět: |
Hand deformity
Karsch Neugebauer syndrome Foot Deformities Congenital Split foot business.industry Syndrome Anatomy Nystagmus Middle Aged Monodactyly medicine.disease Nystagmus Pathologic Pedigree Genetics Cleft foot Humans Medicine Abnormalities Multiple Female Dominant inheritance medicine.symptom business Hand Deformities Congenital Genetics (clinical) Congenital nystagmus |
| Zdroj: | Clinical Genetics. 27:97-101 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1985.tb00191.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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