Rhombencephalosynapsis, biparietal alopecia and corneal clouding

被引：1
|
作者：
Hackenberg, A. [1 ,2 ]
Poggenburg, I. [3 ]
Titgemeyer, C. [2 ]
Hagendorff, A. [2 ]
机构：
[1] Univ Kinderkliniken, Kinderspital Zurich, CH-8032 Zurich, Switzerland
[2] Klinikum Bremen Mitte, Prof Hess Kinderklin, Bremen, Germany
[3] Klinikum Oldenburg, Elisabeth Kinderkrankenhaus, Oldenburg, Germany
来源：
MONATSSCHRIFT KINDERHEILKUNDE | 2011年 / 159卷 / 10期
关键词：
Gomez Lopez Hernandez syndrome; Neurocutaneous syndromes; Cerebellotrigeminal dermal dysplasia; Rhombencephalosynapsis; Alopecia; LOPEZ-HERNANDEZ-SYNDROME; OF-THE-LITERATURE; CEREBELLAR MALFORMATIONS;
D O I：
10.1007/s00112-011-2468-5
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The clinical examination of the mentally retarded and emotionally labile 16-year-old patient with congenital internal hydrocephalus revealed parietal alopecia, slightly clouded corneas, brachyturricephaly, late puberty, short stature and ataxia. Magnetic resonance imaging of the brain showed rhombencephalosynapsis as well as other cerebral abnormalities. We made the diagnosis of Gmez-Lpez-Hernandez syndrome. This syndrome is characterized by rhombencephalosynapsis and parietal alopecia, often in association with further typical malformations.
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页码：914 / 917
页数：4
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