Title: The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings
Authors: Lizcano-Gil, L A ×
Garcia-Cruz, D
Cantu, J M
Fryns, Jean-Pierre #
Issue Date: 1994
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:5 issue:4 pages:387-92
Abstract: The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.