Mandibuloacral Dysplasia Type A in Childhood
Mandibuloacral Dysplasia Type A in Childhood
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DOI：
10.1002/ajmg.a.33005
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发表时间：
2009-10-01
影响因子：
2
通讯作者：
Novelli, G.
中科院分区：
文献类型：
--
作者：
Garavelli, L.;D'Apice, M. R.;Novelli, G.
A型下颌骨肢端发育不良（MADA）的特征为生长迟缓、出生后出现伴有下颌发育不全的颅面畸形、进行性肢端骨质溶解以及皮肤改变，包括斑驳状色素沉着、皮肤萎缩和脂肪营养不良。由于其病程进展缓慢，该综合征在成人中被发现，儿科病例报告则较为罕见。我们介绍了两个在异常年幼时就被诊断为MADA的儿童临床病例。一名5岁男孩表现出眼球突出、鼻子细长以及手指远端指骨短而呈球状。一名4岁女孩表现出圆脸和胖脸颊、鼻子细长、指尖呈球状以及A型脂肪营养不良。在这两个病例中，骨骼检查均显示有缝间骨、锁骨纤细、手指和脚趾远端指骨短且伴有肢端骨质溶解。两名儿童均被发现为LMNA基因第9外显子中反复出现的错义突变c.1580G>A（p.R527H）的纯合子。因此，MADA的表型可在学龄前显现；通过短而呈球状的指尖、面部特征和脂肪营养不良可提示诊断，肢端骨质溶解的发现可支持诊断，而突变分析可确诊。（C）2009威利 - 利斯公司
Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis. (C) 2009 Wiley-Liss, Inc.