Literature DB >> 2174209

The craniodigital syndrome of Scott: report of a second family.

P Lorenz1, G K Hinkel, C Hoffmann, E Rupprecht.   

Abstract

We report on a boy with a characteristic combination of facial anomalies, syndactylies of fingers and toes, and mental retardation. Scott et al. (Journal of Pediatrics 78:658-663, 1971) observed 3 brothers with almost identical manifestations. The mother of these patients had bilateral syndactyly of toes 2 and 3. This led the authors to suggest X-linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X-linked inheritance.

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Year:  1990        PMID: 2174209     DOI: 10.1002/ajmg.1320370211

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

Review 1.  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

2.  Multiple dental and skeletal abnormalities in an individual with filippi syndrome.

Authors:  Meera Sandhu; Pooja Malik; Rooposhi Saha
Journal:  Case Rep Dent       Date:  2013-10-08
  2 in total

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