Literature DB >> 7128643

Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

T Goecke, F Majewski, K D Kauther, U Sterzel.   

Abstract

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.

Entities:  

Mesh:

Year:  1982        PMID: 7128643     DOI: 10.1007/bf00442512

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


  5 in total

1.  A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

Authors:  M M Cohen; B D Hall; D W Smith; C B Graham; K J Lampert
Journal:  J Pediatr       Date:  1973-08       Impact factor: 4.406

2.  The Cohen syndrome: clinical and endocrinological studies of two new cases.

Authors:  P Balestrazzi; L Corrini; G Villani; M P Bolla; F Casa; S Bernasconi
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

3.  Cardiac involvement in the Cohen syndrome: a case report.

Authors:  J Sack; E Friedman
Journal:  Clin Genet       Date:  1980-05       Impact factor: 4.438

4.  Cohen syndrome: further delineation and inheritance.

Authors:  B G Kousseff
Journal:  Am J Med Genet       Date:  1981

5.  Confirmation of the Cohen syndrome.

Authors:  J C Carey; B D Hall
Journal:  J Pediatr       Date:  1978-08       Impact factor: 4.406

  5 in total
  5 in total

1.  Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

Authors:  K E Chandler; A Kidd; L Al-Gazali; J Kolehmainen; A-E Lehesjoki; G C M Black; J Clayton-Smith
Journal:  J Med Genet       Date:  2003-04       Impact factor: 6.318

2.  The clinical features of the Cohen syndrome: further case reports.

Authors:  C North; M A Patton; M Baraitser; R M Winter
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

3.  Intrafamilial variation in Cohen syndrome.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

4.  Growth hormone deficiency in a girl with the Cohen syndrome.

Authors:  G Massa; L Dooms; M Vanderschueren-Lodeweyckx
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

Review 5.  Cohen Syndrome: Review of the Literature.

Authors:  Jonathan M Rodrigues; Hermina D Fernandes; Carrie Caruthers; Stephen R Braddock; Alan P Knutsen
Journal:  Cureus       Date:  2018-09-18
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.