一名患有天使综合征男孩的单侧唇裂。
Unilateral cleft lip in a boy with Angelman syndrome.
作者信息
Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter D H, Orstavik K H
机构信息
Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Norway.
出版信息
J Craniofac Genet Dev Biol. 1996 Apr-Jun;16(2):122-5.
We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromosome 15 q11-13 and thus confirmed the diagnosis. In addition, the patient had a unilateral, incomplete cleft lip, a feature which has not previously been reported in Angelman syndrome.
我们报告了一名患有癫痫发作、小头畸形、共济失调和发育迟缓的智障男孩。他的临床特征与天使综合征相符。荧光原位杂交和DNA分析显示15号染色体q11 - 13缺失，从而确诊。此外，该患者有单侧不完全唇裂，这一特征此前在天使综合征中尚未有报道。
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