两兄弟患有非典型并指畸形、小脑萎缩和严重智力障碍。
Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
作者信息
Schorderet D F, Addor M C, Maeder Ph, Roulet E, Junier L
机构信息
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
出版信息
Genet Couns. 2002;13(4):441-7.
PMID:12558115
Abstract
Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome.
摘要
本文描述了两兄弟，他们患有非典型并指畸形、小脑萎缩和严重智力障碍。这些病例与颅指综合征组具有重要特征，可能代表菲利皮综合征的新病例。小脑萎缩可能是该综合征中尚未报道的发现。
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