Abstract
We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation confirms that this syndrome is a distinct, probably autosomal recessive entity.
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- Filippi G. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome? Am J Med Genet. 1985 Dec;22(4):821–824. doi: 10.1002/ajmg.1320220416. [DOI] [PubMed] [Google Scholar]
- Lorenz P., Hinkel G. K., Hoffmann C., Rupprecht E. The craniodigital syndrome of Scott: report of a second family. Am J Med Genet. 1990 Oct;37(2):224–226. doi: 10.1002/ajmg.1320370211. [DOI] [PubMed] [Google Scholar]
- Meinecke P. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family. Genet Couns. 1993;4(2):147–151. [PubMed] [Google Scholar]
- Toriello H. V., Higgins J. V. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. Am J Med Genet. 1995 Jan 16;55(2):200–204. doi: 10.1002/ajmg.1320550210. [DOI] [PubMed] [Google Scholar]
- Zerres K., Rietschel M., Rietschel E., Majewski F., Meinecke P. Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? J Med Genet. 1992 Apr;29(4):269–271. doi: 10.1136/jmg.29.4.269. [DOI] [PMC free article] [PubMed] [Google Scholar]