Literature DB >> 2352263

The Coffin-Siris syndrome.

Q H Qazi1, L S Heckman, D Markouizos, R S Verma.   

Abstract

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

Entities:  

Mesh:

Year:  1990        PMID: 2352263      PMCID: PMC1017087          DOI: 10.1136/jmg.27.5.333

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  16 in total

1.  The Coffin-Siris syndrome in two siblings.

Authors:  P Franceschini; M Cirillo Silengo; R Bianco; M Biagioli; A Guala; G Lopez Bell
Journal:  Pediatr Radiol       Date:  1986

2.  Coffin-Siris syndrome. Two new cases.

Authors:  W H Weiswasser; B D Hall; G W Delavan; D W Smith
Journal:  Am J Dis Child       Date:  1973-06

3.  Mental retardation with absent fifth fingernail and terminal phalanx.

Authors:  G S Coffin; E Siris
Journal:  Am J Dis Child       Date:  1970-05

4.  Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome.

Authors:  J Bodurtha; A Kessel; W Berman; M Hartenberg
Journal:  J Pediatr       Date:  1986-12       Impact factor: 4.406

5.  The Coffin-Siris syndrome.

Authors:  G S Coffin; E Siris
Journal:  Am J Dis Child       Date:  1985-01

6.  The Coffin-Siris syndrome: report of a family and further delineation.

Authors:  M Haspeslagh; J P Fryns; H van den Berghe
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438

7.  The Coffin-Siris syndrome.

Authors:  W W Tunnessen; J A McMillan; M B Levin
Journal:  Am J Dis Child       Date:  1978-04

8.  The Coffin-Siris syndrome: five new cases including two siblings.

Authors:  J C Carey; B D Hall
Journal:  Am J Dis Child       Date:  1978-07

9.  Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.

Authors:  Q H Qazi; B S Nangia
Journal:  J Pediatr       Date:  1984-03       Impact factor: 4.406

10.  Coffin-Siris syndrome. Neuropathologic findings.

Authors:  W A DeBassio; T L Kemper; J E Knoefel
Journal:  Arch Neurol       Date:  1985-04
View more
  4 in total

Review 1.  Coffin-Siris syndrome.

Authors:  P Levy; M Baraitser
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

2.  Coffin-Siris syndrome with normal plasma biotinidase activity.

Authors:  D Bonneau; M Berthier; D Oriot; A Munnich
Journal:  Eur J Pediatr       Date:  1991-07       Impact factor: 3.183

3.  Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Authors:  Deepak Goyal; Dinesh K Yadav; Umesh Shukla; Sidharth K Sethi
Journal:  J Med Case Rep       Date:  2010-11-08

4.  Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.

Authors:  Aditya Kumar Bubna; Mahalakshmi Veeraraghavan; Sankarasubramaniam Anandan; Sudha Rangarajan
Journal:  Int J Trichology       Date:  2015 Apr-Jun
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.