Literature DB >> 4029956

Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.

M Buttiëns, J P Fryns, P Jonckheere, K Brouckmans-Buttiëns, H Van den Berghe.   

Abstract

The association of postaxial polydactyly type A and congenital scalp defect in a 15-year-old severely mentally retarded male confirms the previously reported suggestion that the combination of both anomalies represents a new distinct entity with autosomal dominant inheritance and variable expression.

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Year:  1985        PMID： 4029956     DOI： 10.1007/bf00295675

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs.

Authors:  N Scribanu; S A Temtamy
Journal:  J Pediatr       Date:  1975-07       Impact factor: 4.406

2.  Congenital scalp defects with distal limb anomalies: report of a family.

Authors:  B K Burton; L Hauser; H L Nadler
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

3.  Congenital scalp defect with distal limb reduction anomalies.

Authors:  J P Fryns; L Corbeel; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1977-11-04       Impact factor: 3.183

4.  Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases.

Authors:  B R McMurray; L W Martin; P St John Dignan; M H Fogelson
Journal:  Clin Pediatr (Phila)       Date:  1977-07       Impact factor: 1.168

5.  Autosomal dominant inheritance of scalp defects with ectrodactyly.

Authors:  R P Bonafede; P Beighton
Journal:  Am J Med Genet       Date:  1979

6.  Congenital scalp defects associated with postaxial polydactyly.

Authors:  J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132
  6 in total

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