A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris
A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris
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DOI：
10.14310/horm.2002.1111040
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发表时间：
2008-01-01
影响因子：
3.2
通讯作者：
Varlamis, George S.
中科院分区：
文献类型：
--
作者：
Galli-Tsinopoulou, Assimina;Emmanouilidou, Eleftheria;Varlamis, George S.
银罗素综合征（SRS）是一种罕见的疾病（113000 - 1/100,000新生儿）。我们报告一位女婴，她患有SRS、心脏位置不正及阴蒂不对称性增大。她是希腊非血缘父母的第一个孩子，在体外受精（IVF）后怀孕38周出生。患者有宫内发育迟缓、身体不对称、阴蒂增大、外生殖器偏侧肥大和SRS特征。心电图和胸部X光检查显示心脏位置居中。婴儿符合Price等人提出的SRS标准。遗传分析未发现7号染色体的mUPD。这是第一个报告的患者SRS提出的“中心”和不对称的阴蒂扩大。我们的病例构成了IVF后SRS的另一个范例，这可能支持IVF可能与SRS患病率高于自然受精相关的假设。
Silver Russell Syndrome (SRS) is a rare condition (113000 - 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation, following in vitro fertilisation (IVF). The patient had intrauterine growth retardation, body asymmetry, enlarged clitoris, hemihypertrophy of external genitalia and features characteristic of SRS. Electrocardiography and chest X-rays revealed a median position of the heart. The infant fulfilled the criteria proposed by Price et al for SRS. Genetic analysis did not reveal mUPD of chromosome 7. This is the first report of a patient with SRS presenting "mesocardia" and asymmetric enlargement of the clitoris. Our case constitutes another paradigm of SRS following IVF, which possibly supports the hypothesis that IVF may be associated with higher prevalence of SRS than natural fertilisation.