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The Aarskog (facio‐digito‐genital) Syndrome
Author(s) -
Hoo J. J.
Publication year - 1979
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.1399-0004.1979.tb00999.x
Subject(s) - sex organ , facultative , inheritance (genetic algorithm) , biology , genetics , anatomy , gene , botany
A kindred with the Aarskog Syndrome (facio‐digito‐genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft palate may well be facultative features of the Aarskog syndrome, and that the characteristic dermatoglyphic pattern includes simian creases and distal axial triradii. The pedigree analysis from 14 known kindreds strongly suggests an X‐linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.