A new patient with Lowry-Wood syndrome with mild phenotype
A new patient with Lowry-Wood syndrome with mild phenotype
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DOI：
10.1002/ajmg.a.20008
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发表时间：
2003-04-01
影响因子：
2
通讯作者：
Sebastio, G
中科院分区：
文献类型：
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作者：
Brunetti-Pierri, N;De Brasi, D;Sebastio, G
Lowry-Wood综合征（LWS）是一种罕见的疾病，其特征是多发性骨骺发育不良（MED）、小头畸形和先天性眼球震颤。也可能存在不同程度的智力迟钝。它可能是作为常染色体隐性遗传性状遗传的。我们报告了一个新的MED和小头畸形的情况下，没有其他额外的功能，表明一种轻度形式的LWS。对软骨寡聚基质蛋白（COMP）基因进行了分子分析，未能发现突变。(C)2003 Wiley-Liss，Inc.
Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations. (C) 2003 Wiley-Liss, Inc.