Literature DB >> 3684360

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

D Sillence1, K Kozlowski, J Bar-ziv, A Fuhrumann-Rieger, W Fuhrmann, F Pascu.   

Abstract

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Entities:  

Mesh：

Year:  1987        PMID： 3684360     DOI： 10.1007/bf02388282

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  12 in total

Review 1.  An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.

Authors:  I C Verma; S Bhargava; S Agarwal
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.

Authors:  M M Richardson; A L Beaudet; M L Wagner; S Malini; H S Rosenberg; J A Lucci
Journal:  J Pediatr       Date:  1977-09       Impact factor: 4.406

3.  [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

4.  Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy.

Authors:  K Kozlowski; C Szmigiel; A Barylak; M Stopyrowa
Journal:  Australas Radiol       Date:  1972-12

5.  Short rib-polydactyly syndrome type 3.

Authors:  P Naumoff; L W Young; J Mazer; A J Amortegui
Journal:  Radiology       Date:  1977-02       Impact factor: 11.105

6.  Non-Majewski short rib-polydactyly syndrome.

Authors:  D O Sillence
Journal:  Am J Med Genet       Date:  1980

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

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

Authors:  T Motegi; M Kusunoki; T Nishi; T Hamada; N Sato; T Imamura; N Mohri
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

9.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

10.  Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.

Authors:  S S Yang; C S Lin; A Al Saadi; B S Nangia; J Bernstein
Journal:  Am J Med Genet       Date:  1980
View more
  3 in total

1.  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

2.  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

Review 3.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.