Literature DB >> 8181503

Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome.

B Bratanic1, M Praprotnik, M Novosel-Sever.   

Abstract

A girl, born after in vitro fertilisation to a 39-year-old primi-para, had congenital craniofacial synostosis, gyrated skin and ventriculomegaly together with other minor anomalies. This is the sixth patient with the Beare-Stevenson syndrome. The disorder is discussed together with other congenital overgrowth syndromes.

Entities:  

Mesh：

Year:  1994        PMID： 8181503     DOI： 10.1007/bf01958982

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  8 in total

1.  A previously unrecognized X-linked syndrome of dysmorphia.

Authors:  J L Simpson; S Landey; M New; J German
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

Authors:  D D Weaver; C B Graham; I T Thomas; D W Smith
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

3.  Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome.

Authors:  J M Beare; J A Dodge; N C Nevin
Journal:  Br J Dermatol       Date:  1969-04       Impact factor: 9.302

4.  Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome.

Authors:  R E Stevenson; G J Ferlauto; H A Taylor
Journal:  J Pediatr       Date:  1978-06       Impact factor: 4.406

Review 5.  Wiedemann-Beckwith syndrome.

Authors:  W Engström; S Lindham; P Schofield
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

6.  A new X-linked mental retardation-overgrowth syndrome.

Authors:  M Golabi; L Rosen
Journal:  Am J Med Genet       Date:  1984-01

Review 7.  Craniosynostosis update 1987.

Authors:  M M Cohen
Journal:  Am J Med Genet Suppl       Date:  1988

8.  A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

Authors:  A Behmel; E Plöchl; W Rosenkranz
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  8 in total
  2 in total

Review 1.  Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

Authors:  Saïd C Azoury; Sashank Reddy; Vivek Shukla; Chu-Xia Deng
Journal:  Int J Biol Sci       Date:  2017-11-02       Impact factor: 6.580

2.  Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Authors:  Leonardo C Ferreira; José H Dantas Junior
Journal:  Front Genet       Date:  2020-02-25       Impact factor: 4.599
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.