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The Aarskog syndrome in three brothers
Author(s) -
Funderburk Steve J.,
Crandall Barbara F.
Publication year - 1974
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.1399-0004.1974.tb00639.x
Subject(s) - short stature , medicine , inheritance (genetic algorithm) , sex organ , pediatrics , genetics , biology , gene
A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X‐linked recessive or autosomal dominant, with limited expression in the female.