Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Mobius syndrome

被引：4

作者：

Al Kaissi, Ali ^{[1
,3
]}

Grill, Franz ^{[2
]}

Safi, Hatem ^{[3
]}

Ben Ghachem, Maher

Ben Chehida, Farid ^{[4
]}

Klaushofer, Klaus ^{[1
]}

机构：

[1] Hanusch Hosp, Ludwig Boltzmann Inst Osteol, Dept Med 4, WGKK & Auva Trauma Ctr Meidling, Vienna, Austria

[2] Orthoped Hosp Speising, Dept Pediat, Vienna, Austria

[3] Childrens Hosp, Dept Pediat Orthoped Surg, Tunis, Tunisia

[4] Ibn Zohr Inst Radiol, Dept Imaging Studies, Tunis, Tunisia

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2007年 / 2卷 / 1期

关键词：

D O I：

10.1186/1750-1172-2-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Mobius syndrome.

引用

页数：4

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