Male with type II autosomal recessive cutis laxa.
A 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.
Imaizumi
K
K
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kurosawa
K
K
Makita
Y
Y
Masuno
M
M
Kuroki
Y
Y
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003483:Cutis Laxa / Q000235:genetics*; D005190:Family; D006801:Humans; D008297:Male; D010641:Phenotype