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X‐linked cubitus valgus with mental retardation and typical face
Author(s) -
Jones Kenneth Lyons,
Kosaki Kenjiro,
Hall Bryan D.
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.20494
Subject(s) - rubinstein–taybi syndrome , microcephaly , cubitus varus , psychology , medicine , pediatrics , orthodontics , dermatology , osteotomy
In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10‐year‐old male and his 30‐year‐old maternal uncle and an unrelated 15‐year‐old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep‐set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X‐linked recessive mode of inheritance for this condition. © 2003 Wiley‐Liss, Inc.