Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

Neoklis A. Georgopoulos; Vasiliki Koika; Petros Varmavas; Alexandra Efthymiadou; Dimitra J. Marioli; Stefanos Mantagos; Dionysios Chrysis

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Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

机译：儿童时期能否偶尔诊断出Kallmann综合征？伴有肾发育不全和镜子运动的儿童的遗传学诊断

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机译：@@ Dear Sir,I am Neoklis A. Georgopoulos, from Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology, University of Patras Medical School,Greece. We present an early prepubertal diagnosis of Kallmann syndrome (KS) in a child with anosmia, renal agenesis and mirror movements. KS is a congenital defect characterized by the presence of hypogonadotropic hypogonadism and anosmia or hyposmia [1].Besides hypogonadism and anosmia, the clinical phenotype is characterized by the presence of other associated features, including, among others, mirror movements (synkinesis), cleft palate and renal agenesis/dysgenesis.

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《亚洲男性学杂志（英文版）》 |2009年第4期|521-523|共3页
作者
Neoklis A. Georgopoulos; Vasiliki Koika; Petros Varmavas; Alexandra Efthymiadou; Dimitra J. Marioli; Stefanos Mantagos; Dionysios Chrysis;
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Department of Obstetrics and Gynecology Division of Reproductive Endocrinology University of Patras Medical School Rio 26500 Greece;

Department of Pediatrics Division of Endocrinology University of Patras Medical School Rio 26500 Greece;

Department of Pediatrics University of Patras Medical School Rio26500 Greece;

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收录信息中国科学引文数据库(CSCD);中国科技论文与引文数据库(CSTPCD);
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Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

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