Literature DB >> 1867272

Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.

S S Yang1, J A Roth, L O Langer.   

Abstract

A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.

Entities:  

Mesh:

Year:  1991        PMID: 1867272     DOI: 10.1002/ajmg.1320390302

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


  5 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 syndrome of the Beemer type without polydactyly.

Authors:  M S Lungarotti; C Martello; I Marinelli; L Falasca
Journal:  Pediatr Radiol       Date:  1993

3.  Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Authors:  Wenjuan Zhang; S Paige Taylor; Hayley A Ennis; Kimberly N Forlenza; Ivan Duran; Bing Li; Jorge A Ortiz Sanchez; Lisette Nevarez; Deborah A Nickerson; Michael Bamshad; Ralph S Lachman; Deborah Krakow; Daniel H Cohn
Journal:  Hum Mutat       Date:  2017-11-06       Impact factor: 4.878

4.  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

5.  DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Authors:  Kristin Kessler; Ina Wunderlich; Steffen Uebe; Nathalie S Falk; Andreas Gießl; Johann Helmut Brandstätter; Bernt Popp; Patricia Klinger; Arif B Ekici; Heinrich Sticht; Helmuth-Günther Dörr; André Reis; Ronald Roepman; Eva Seemanová; Christian T Thiel
Journal:  Sci Rep       Date:  2015-07-01       Impact factor: 4.379

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.