先天性皮肤松弛症伴生长发育迟缓。
Congenital cutis laxa with retardation of growth and development.
作者信息
Patton M A, Tolmie J, Ruthnum P, Bamforth S, Baraitser M, Pembrey M
机构信息
Department of Clinical Genetics, Institute of Child Health, London.
出版信息
J Med Genet. 1987 Sep;24(9):556-61. doi: 10.1136/jmg.24.9.556.
Abstract
Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct and is likely to be autosomal recessive in view of the two brother-sister sib pairs in this report.
摘要
本文报告了7例先天性皮肤松弛症患者。相关特征包括发育迟缓、关节松弛、前囟宽大、生长发育迟缓、龋齿和骨质减少。文中讨论了先天性皮肤松弛症的异质性和遗传方式。鉴于本报告中的两对亲兄妹病例，这种特殊综合征似乎具有独特性，且可能为常染色体隐性遗传。
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