特殊面容、小头畸形、生长发育和智力迟缓以及并指（趾）畸形。一种新的综合征？

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

作者信息

Filippi G

出版信息

Am J Med Genet. 1985 Dec;22(4):821-4. doi: 10.1002/ajmg.1320220416.

DOI:10.1002/ajmg.1320220416

Abstract

A syndrome with similarities to blepharo-naso-facial and KBG syndromes is described, indicating some important differences.

摘要

描述了一种与睑鼻面部综合征和KBG综合征相似的综合征，并指出了一些重要差异。

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Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?特殊面容、小头畸形、生长发育和智力迟缓以及并指（趾）畸形。一种新的综合征？

Am J Med Genet. 1985 Dec;22(4):821-4. doi: 10.1002/ajmg.1320220416.

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GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.生长发育迟缓、眼部异常、小头畸形、短指畸形和智力发育迟缓的贡博综合征：一种可能的“新的”隐性遗传的脑小畸形/智力障碍综合征。

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Novel variants identified in in two siblings with Filippi syndrome.在两个患有 Filippi 综合征的兄弟姐妹中发现的新型变异。

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Filippi Syndrome: Report of a Rare Case.菲利皮综合征：1例罕见病例报告。

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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.CKAP2L（小鼠Radmis基因的人类同源基因）的突变会导致菲利皮综合征。

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008.

Multiple dental and skeletal abnormalities in an individual with filippi syndrome.一名患有菲利皮综合征的个体出现多种牙齿和骨骼异常。

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Filippi syndrome: a new case with skeletal abnormalities.菲利皮综合征：一例伴有骨骼异常的新病例。

J Med Genet. 1995 Aug;32(8):659-61. doi: 10.1136/jmg.32.8.659.

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Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?产后身材矮小、小头畸形、手足严重并指（趾）畸形、面部畸形及智力发育迟缓：一种新综合征？

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特殊面容、小头畸形、生长发育和智力迟缓以及并指（趾）畸形。一种新的综合征？

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

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