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

作者信息

Lorenz P, Hinkel G K, Hoffmann C, Rupprecht E

机构信息

Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.

出版信息

Am J Med Genet. 1990 Oct;37(2):224-6. doi: 10.1002/ajmg.1320370211.

DOI:10.1002/ajmg.1320370211
PMID:2174209
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.

摘要

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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.