FEMALE INFANT WITH ONCOCYTIC CARDIOMYOPATHY AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - A CLUE TO THE PATHOGENESIS OF ONCOCYTIC CARDIOMYOPATHY
FEMALE INFANT WITH ONCOCYTIC CARDIOMYOPATHY AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - A CLUE TO THE PATHOGENESIS OF ONCOCYTIC CARDIOMYOPATHY
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DOI：
10.1002/ajmg.1320530205
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发表时间：
1994-11-01
期刊：
影响因子：
--
通讯作者：
JONES, MC
中科院分区：
文献类型：
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作者：
BIRD, LM;KROUS, HF;JONES, MC
一名女婴在脸颊和颈部有红色星状皮肤病变，轻度短睑裂。她的皮肤异常是典型的小眼球伴线性皮肤缺损（MLS），这是一种新发现的综合征，由Xp 22单体女性的先天性线性皮肤缺损和眼部异常组成。她在4个月大时突然意外死亡;死因被归因于嗜酸细胞性心肌病。嗜酸细胞心肌病仅发生在幼儿中，他们表现出顽固性心律失常，导致心脏骤停。两种罕见疾病的共存，其中一种被映射到X染色体，以及过量的受影响女性患有嗜酸细胞性心肌病，使得嗜酸细胞性心肌病也可能是X连锁的，Xp 22是候选区域。这两种情况的重叠表现（嗜酸细胞性心肌病的眼部异常和MLS的心律失常）为这一假设提供了额外的支持。(C)1994 Wiley-Liss，Inc.
A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy, make it likely that oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. (C) 1994 Wiley-Liss, Inc.