Different Skeletal Phenotypes in a Mother and Two Daughters with Short
Stature Homeobox-Containing Haploinsufficiency |
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Authors: | Keisuke Nagasaki Toru Kikuchi Makoto Uchiyama |
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Institution: | 1. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan |
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Abstract: | Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner
skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We
report the clinical findings of a Japanese family consisting of two daughters with SHOX
haploinsufficiency (46, X, del(X) (p.22.3)) and their mother with 45,X 9]/ 46, X, del(X)
(p22.3) 11] karyotype. Physical and auxological examinations revealed a mesomelic
appearance, cubitus valgus, a short neck and short stature in the daughters, but on the
other hand, only a short neck and short stature in the mother. Radiological studies
indicated markedly curved radii in the daughters, but only mild curvature of the radii in
the mother. Regular menstruation had taken place since the age of 12 yr in the elder
daughter, but the mother had irregular menstruation and she had received fertility
treatment for pregnancy. The different skeletal phenotypes of the mother and her daughters
with SHOX haploinsufficiency might be due to the mild gonadal estrogen deficiency found in
the mother, which was caused by mosaic Turner syndrome, and the phenotypic variability of
SHOX haploinsufficiency. |
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Keywords: | SHOX Madelung deformity haploinsufficiency Turner syndrome mother and daughter |
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