一位母亲及其儿子患梅尼克-尼德尔斯综合征。
Melnick-Needles syndrome in a mother and her son.
作者信息
Neou P, Kyrkanides S, Gioureli E, Bartsocas C S
机构信息
Dept. of Pediatrics, Faculty of Nursing, University of Athens, P. & A. Kyriakou Children's Hospital, Greece.
出版信息
Genet Couns. 1996;7(2):123-9.
The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and short stature. The syndrome is considered to be lethal in males. Nevertheless, five surviving males are considered to represent new mutations. We are presenting an affected surviving male with the Melnick-Needles syndrome born to an affected mother.
梅尔尼克-尼德尔斯综合征是一种罕见的结缔组织疾病，其特征为特定的面部特征（面部骨骼小、眼球突出、眼距过宽、脸颊丰满和下颌小）、骨骼缺陷和身材矮小。该综合征被认为对男性是致命的。然而，有五名存活的男性被认为代表新的突变。我们报告了一名患有梅尔尼克-尼德尔斯综合征的存活男性，其母亲也患有该综合征。
Zotero 插件