Literature DB >> 6859096

Brief clinical report: short rib-polydactyly syndrome, Majewski type.

V M Walley, C F Coates, J J Gilbert, G H Valentine, E M Davies.   

Abstract

We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro-osseous junction suggest that this syndrome may be heterogeneous or more variable than previously known.

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Year:  1983        PMID: 6859096     DOI: 10.1002/ajmg.1320140307

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


  3 in total

1.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

2.  Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

3.  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

  3 in total

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