Spondylocarpotarsal synostosis with epiphyseal dysplasia

被引：16

作者：

Honeywell, C ^{[1
]}

Langer, L ^{[1
]}

Allanson, J ^{[1
]}

机构：

[1] Eastern Ontario Reg Genet Program, Ottawa, ON K1H 8L1, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 109卷 / 04期

关键词：

spondylocarpotarsal synostosis; carpal fusion; autosomal recessive; epiphyseal delay; block vertebrae; short stature; vertebral unsegmented bar;

D O I：

10.1002/ajmg.10383

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome. Unlike other documented cases, radiographs of our patient at 5 1/2 years of age show delay in ossification of many of the epiphyses in addition to delay in carpal ossification. Such delay may have contributed to the distinctly short stature of this boy. This report both confirms and extends the phenotype of this recently delineated syndrome. (C) 2002 Wiley-Liss, Inc.

引用

页码：318 / 322

页数：5

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