Cubitus Valgus With Mental Retardation And Unusual Facies

Clinical Features

Jones and Smith (1973) described 2 male maternal first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. Jones et al. (2003) described 3 additional cases, a 10-year-old male, his 30-year-old maternal uncle, and an unrelated 15-year-old boy, bringing to 5 the number of individuals with this disorder. The principal features included moderate mental retardation, mild microcephaly, a short philtrum, deep-set and downslanting palpebral fissures, multiple nevi, and striking cubitus valgus, which was defined as 'deviation of the long axis of the supinated forearm away from the midline of the body when the elbow is fully extended.' As illustrated by the patient photographs, the forearms angled out at the elbow so that when the arms were hanging beside the body the hands were a distance from the side. Syndromes associated with cubitus valgus were tabulated.

Inheritance

Jones et al. (2003) suggested that the pattern of inheritance of this disorder is consistent with X-linked recessive transmission.