Literature DB >> 834893

Short rib-polydactyly syndrome type 3.

P Naumoff, L W Young, J Mazer, A J Amortegui.   

Abstract

Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from previously described and recognized chondrodysplasias and possibly represent a distinct syndrome. Three identical or very similar cases are found in the literature.

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Mesh:

Year:  1977        PMID: 834893     DOI: 10.1148/122.2.443

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  13 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Authors:  N Badiner; S P Taylor; K Forlenza; R S Lachman; M Bamshad; D Nickerson; D H Cohn; D Krakow
Journal:  Clin Genet       Date:  2017-03-13       Impact factor: 4.438

3.  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

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

6.  Short rib polydactyly syndrome-Type I.

Authors:  S Sridhar; Ravi Kishore; Niranjan Thomas; Atanu Kumar Jana
Journal:  Indian J Pediatr       Date:  2004-04       Impact factor: 1.967

7.  Short rib-polydactyly syndrome type I, Saldino-Noonan.

Authors:  N Kaibara; M Eguchi; K Shibata; K Takagishi
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

8.  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

Review 9.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

10.  Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings.

Authors:  Soo Hyun Lee; Jeong Yeon Cho; Mi Jin Song; Jee Yeon Min; Byoung Hee Han; Young Ho Lee; Byung Jae Cho; Seung Hyup Kim
Journal:  Korean J Radiol       Date:  2002 Apr-Jun       Impact factor: 3.500

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