spondyloepiphysial dysplasia

spon·dy·lo·ep·i·phys·i·al dys·pla·si·a

a group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes with other malformations; autosomal dominant [MIM*183900 and MIM*184100], autosomal recessive [MIM*208230 and MIM*271600], and X-linked recessive [MIM*313400] inheritance have been described.

spon·dy·lo·ep·i·phys·i·al dys·pla·si·a

(spon'di-lō-ep'i-fiz'ē-ăl dis-plā'zē-ă)
A group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes other malformations; autosomal dominant, autosomal recessive, and X-linked recessive inheritance have been described.
References in periodicals archive ?
Schimke immuno-osseous dysplasia (SIOD; MIM 242900) is a multi-system syndrome with autosomal recessive inheritance caused by a rare mutation in chromatin remodeling protein (SMARCAL 1) characterized by disproportional short stature with truncal shortness due to spondyloepiphysial dysplasia, steroid resistant nephrotic syndrome progressing to end stage renal failure (ESRD), recurrent infections caused by cellular immune deficiency and typical phenotypic characteristics (1,2).

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