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Severely delayed epiphyseal ossification dysplasia with normal stature
Author(s) -
Baumann Clarisse,
Garel Catherine,
Vuillemain Lucille,
Hassan Max,
Verloes Alain
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20046
Subject(s) - short stature , medicine , ossification , dysplasia , dwarfism , endocrinology , endocrine system , pediatrics , anatomy , biology , genetics , gene , hormone
We report on a pair of dizygotic twins born to consanguineous parents, showing an extreme delay in skeletal maturation (roughly corresponding to the time of birth at the age of 4 10/12 years), mild metaphyseal irregularities, and normal to large stature (+ 1 to + 2 SD) with normal growth pattern, long fingers, generalized small joint hyperlaxity with flat feet, genua valga, and low normal intellectual development. This disorder was not associated with abnormal endocrine function or abnormal Ca/P metabolism. This epiphyseal disorder is compatible with autosomal recessive inheritance.© 2003 Wiley‐Liss, Inc.