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Familial de Lange syndrome
Author(s) -
Beratis Nicholas G.,
Hsu Lillian Y. F.,
Hirschhorn Kurt
Publication year - 1971
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.1399-0004.1971.tb00274.x
Subject(s) - consanguinity , etiology , genetics , karyotype , medicine , biology , pediatrics , pathology , chromosome , gene
Familial de Lange syndrome with 3 affected siblings in a sibship of 4 is described. The parents were phenotypically normal. No parental consanguinity was demonstrated. The karyotypes of the affected siblings were normal. Although the etiology of the syndrome is obscure, it is likely that it consists of a heterogeneous group of clinical entities. Morphologic criteria may be useful in distinguishing the sporadic cases from the familial ones.