| Title | Male with type II autosomal recessive cutis laxa. | | Author(s) | Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y | | Institution | Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. | | Source | Clin Genet 1994 Jan; 45(1):40-3. | | MeSH | Abnormalities, Multiple
Bone and Bones
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Cutis Laxa
Family
Humans
Male
Phenotype
Research Support, Non-U.S. Gov't
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 8149651 |
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