Literature DB >> 3669050

Congenital cutis laxa with retardation of growth and development.

M A Patton1, J Tolmie, P Ruthnum, S Bamforth, M Baraitser, M Pembrey.   

Abstract

Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct and is likely to be autosomal recessive in view of the two brother-sister sib pairs in this report.

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Year:  1987        PMID： 3669050      PMCID： PMC1050268          DOI： 10.1136/jmg.24.9.556

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


  10 in total

1.  Cutis laxa. Ultrastructural and biochemical studies.

Authors:  K Hashimoto; T Kanzaki
Journal:  Arch Dermatol       Date:  1975-07

2.  Chromosomal localization of the human elastin gene.

Authors:  B S Emanuel; L Cannizzaro; N Ornstein-Goldstein; Z K Indik; K Yoon; M May; L Oliver; C Boyd; J Rosenbloom
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

3.  Cutis laxa, skeletal anomalies, and ambiguous genitalia.

Authors:  C I Kaye; D E Fisher; N B Esterly
Journal:  Am J Dis Child       Date:  1974-01

4.  The dominant and recessive forms of cutis laxa.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

5.  Plastic surgery in cutis laxa.

Authors:  P Beighton; J C Bull; M T Edgerton
Journal:  Br J Plast Surg       Date:  1970-07

6.  Cutis laxa. A manifestation of generalized elastolysis.

Authors:  R W Goltz; A M Hult; M Goldfarb; R J Gorlin
Journal:  Arch Dermatol       Date:  1965-10

7.  X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity.

Authors:  P H Byers; R C Siegel; K A Holbrook; A S Narayanan; P Bornstein; J G Hall
Journal:  N Engl J Med       Date:  1980-07-10       Impact factor: 91.245

8.  Two forms of cutis laxa presenting in the newborn period.

Authors:  A Agha; N O Sakati; M C Higginbottom; K L Jones; C Bay; W L Nyhan
Journal:  Acta Paediatr Scand       Date:  1978-11

9.  Congenital cutis laxa and osteoporosis.

Authors:  N O Sakati; W L Nyhan
Journal:  Am J Dis Child       Date:  1983-05

10.  Cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases.

Authors:  Z A Karrar; A T Elidrissy; K A Adam
Journal:  Prog Clin Biol Res       Date:  1982
  10 in total
  11 in total

Review 1.  Costello syndrome: natural history and differential diagnosis of cutis laxa.

Authors:  S J Davies; H E Hughes
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

2.  Cutis laxa: a feature of Costello syndrome.

Authors:  S J Davies; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Is geroderma osteodysplastica underdiagnosed?

Authors:  A G Hunter
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

Review 4.  Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.

Authors:  Daniel J Colacurcio; Ralph A Nixon
Journal:  Ageing Res Rev       Date:  2016-05-16       Impact factor: 10.895

Review 5.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

6.  Sotos syndrome and cutis laxa.

Authors:  S P Robertson; A Bankier
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

Review 7.  Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

Authors:  E A Anum; L D Hill; A Pandya; J F Strauss
Journal:  Placenta       Date:  2009-01-18       Impact factor: 3.481

8.  Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

Authors:  Pooja Arora; Payal Chakravarty; Deepshikha Khanna; Ruchika Gupta
Journal:  Indian Dermatol Online J       Date:  2016 Sep-Oct

9.  Incidental Detection of Bilateral Large Urinary Bladder Diverticulae on Tc99m Ethylene Dicysteine Renography with Single-photon Emission Computed Tomography-Computed Tomography.

Authors:  Ashwin Singh Parihar; Shelvin Kumar Vadi; Prema Menon; Bhagwant Rai Mittal; Anish Bhattacharya
Journal:  Indian J Nucl Med       Date:  2018 Jan-Mar

10.  Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis.

Authors:  Mehdi Alehossein; Masoud Pourgholami; Kamyar Kamrani; Mohammad Soltani; Afshin Yazdi; Payman Salamati
Journal:  Iran J Radiol       Date:  2013-05-20       Impact factor: 0.212
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