Literature DB >> 2918526

Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?

P Daish1, M J Hardman, M A Lamont.   

Abstract

We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.

Entities:  

Mesh：

Year:  1989        PMID： 2918526      PMCID： PMC1015537          DOI： 10.1136/jmg.26.1.51

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


  4 in total

1.  Mucinous degeneration of the cardiac valves: the "floppy valve" syndrome.

Authors:  W J Frable
Journal:  J Thorac Cardiovasc Surg       Date:  1969-07       Impact factor: 5.209

2.  Articular mobility in an African population.

Authors:  P Beighton; L Solomon; C L Soskolne
Journal:  Ann Rheum Dis       Date:  1973-09       Impact factor: 19.103

3.  Primary myxomatous degeneration of cardiac valves. Clinical, pathological, haemodynamic, and echocardiographic profile.

Authors:  J Rippe; M C Fishbein; B Carabello; G Angoff; L Sloss; J J Collins; J S Alpert
Journal:  Br Heart J       Date:  1980-12

4.  Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome.

Authors:  R C Read; A P Thal; V E Wendt
Journal:  Circulation       Date:  1965-12       Impact factor: 29.690
  4 in total
  5 in total

1.  Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Authors:  L A Janssen; L A Sandkuijl; J R Sampson; D J Halley
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

2.  Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Authors:  M Nellist; P T Brook-Carter; J M Connor; D J Kwiatkowski; P Johnson; J R Sampson
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

3.  Somatic Development Disorders in Children and Adolescents Affected by Syndromes and Diseases Associated with Neurodysfunction and Hydrocephalus Treated/Untreated Surgically.

Authors:  Lidia Perenc; Agnieszka Guzik; Justyna Podgórska-Bednarz; Mariusz Drużbicki
Journal:  Int J Environ Res Public Health       Date:  2022-05-07       Impact factor: 4.614

4.  Phenotype-genotype correlations in X linked retinitis pigmentosa.

Authors:  J Kaplan; A Pelet; C Martin; O Delrieu; S Aymé; D Bonneau; M L Briard; A Hanauer; L Larget-Piet; P Lefrançois
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

5.  Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Authors:  J R Sampson; L A Janssen; L A Sandkuijl
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318
  5 in total

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