Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Clin Genet. 1994 Jan;45(1):40-3. doi: 10.1111/j.1399-0004.1994.tb03988.x.
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.
本文描述了一名5岁男孩，其出生前后均有生长发育迟缓、运动发育延迟、皮肤松弛、囟门闭合延迟、先天性髋关节脱位及特殊面容。皮肤松弛症现分为五种类型。该患者的临床表现与伴有骨营养不良的皮肤松弛症（常染色体隐性遗传性皮肤松弛症II型）极为相似。此前已报道过18例患者，男女比例为5比14。这是该疾病在男性患者中出现的第五例，为常染色体隐性遗传提供了进一步证据。
