Literature DB >> 26813917

Filippi Syndrome: Report of a Rare Case.

Lata Goyal1, Jagdish Prasad Goyal2, Bhanu Kiran Bhakhri2, Ashi Chug3.   

Abstract

Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, growth retardation and abnormal facies. We are describing a boy who presented with syndactyly, mental retardation, microcephaly, depressed nasal bridge and growth retardation. In addition he had some dental abnormalities like missing bilateral lateral incisors and delayed eruption of teeth. We concluded it to be Filippi syndrome by studying pathognomic clinical features and reviewed the literature. This is the second case report from India.

Entities:  

Keywords:  Growth Retardation; Mental Retardation; Syndactyly

Year:  2015        PMID: 26813917      PMCID: PMC4717725          DOI: 10.7860/JCDR/2015/14550.6945

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  15 in total

1.  Expanding the phenotype of Filippi syndrome: a report of three cases.

Authors:  I R Walpole; T Parry; J Goldblatt
Journal:  Clin Dysmorphol       Date:  1999-10       Impact factor: 0.816

2.  Filippi syndrome: two cases with ectodermal features, expanding the phenotype.

Authors:  S Sharif; D Donnai
Journal:  Clin Dysmorphol       Date:  2004-10       Impact factor: 0.816

3.  An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

Authors:  A Orrico; G Hayek
Journal:  Clin Genet       Date:  1997-09       Impact factor: 4.438

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

Authors:  G Filippi
Journal:  Am J Med Genet       Date:  1985-12

Review 5.  Filippi syndrome: a new case with skeletal abnormalities.

Authors:  D Héron; T Billette de Villemeur; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

6.  Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.

Authors:  P Meinecke
Journal:  Genet Couns       Date:  1993

7.  Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.

Authors:  H V Toriello; J V Higgins
Journal:  Am J Med Genet       Date:  1995-01-16

8.  Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

Authors:  D F Schorderet; M C Addor; Ph Maeder; E Roulet; L Junier
Journal:  Genet Couns       Date:  2002

9.  Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?

Authors:  K Zerres; M Rietschel; E Rietschel; F Majewski; P Meinecke
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 10.  Filippi syndrome: further clinical characterization.

Authors:  Agatino Battaglia; Tiziana Filippi; Silvia Pusceddu; Charles A Williams
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

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