Literature DB >> 478536

Short rib-polydactyly syndrome, Majewski type, in two male siblings.

T Motegi, M Kusunoki, T Nishi, T Hamada, N Sato, T Imamura, N Mohri.   

Abstract

Two male siblings with a short rib-polydactyly syndrome, Majewski type (Majewski syndrome), are reported. To our knowledge, the present report is the first one of siblings each confirmed to be affected by Majewski syndrome, and it may therefore contribute to establishing the mode of inheritance.

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Year:  1979        PMID： 478536     DOI： 10.1007/bf00569346

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


  2 in total

1.  [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].

Authors:  F Majewski; R A Pfeiffer; W Lenz; R Müller; G Feil; R Seiler
Journal:  Z Kinderheilkd       Date:  1971

2.  Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Authors:  J Spranger; B Grimm; M Weller; G Weissenbacher; J Herrmann; E Gilbert; R Krepler
Journal:  Z Kinderheilkd       Date:  1974-01-17
  2 in total
  7 in total

1.  Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Authors:  D Sillence; K Kozlowski; J Bar-ziv; A Fuhrumann-Rieger; W Fuhrmann; F Pascu
Journal:  Pediatr Radiol       Date:  1987

2.  Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

Authors:  F Majewski; H Stöss; T Goecke; H Kemperdick
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Parental consanguinity and the Majewski syndrome.

Authors:  I L Black; J Fitzsimmons; E Fitzsimmons; A J Thomas
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

4.  Ocular pathology of the Majewski syndrome.

Authors:  J Chess; D M Albert
Journal:  Br J Ophthalmol       Date:  1982-11       Impact factor: 4.638

5.  Difficulties in classification of the short rib-polydactyly syndromes.

Authors:  E D Cherstvoy; I W Lurie; I A Shved; G I Lazjuk; T I Ostrowskaya; S S Usoev
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

Review 6.  Glomerulocystic kidney disease--nosological considerations.

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

7.  Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors:  R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318
  7 in total

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