Literature DB >> 102106

Two forms of cutis laxa presenting in the newborn period.

A Agha, N O Sakati, M C Higginbottom, K L Jones, C Bay, W L Nyhan.   

Abstract

Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa.

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Year:  1978        PMID: 102106     DOI: 10.1111/j.1651-2227.1978.tb16260.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  8 in total

1.  Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.

Authors:  Dessislava Markova; Yaqun Zou; Franziska Ringpfeil; Takako Sasaki; Günter Kostka; Rupert Timpl; Jouni Uitto; Mon-Li Chu
Journal:  Am J Hum Genet       Date:  2003-02-28       Impact factor: 11.025

2.  Congenital cutis laxa.

Authors:  Anupama Mauskar; Preeti Shanbag; Varsha Ahirrao; Leena Nagotkar
Journal:  Ann Saudi Med       Date:  2010 Mar-Apr       Impact factor: 1.526

Review 3.  Vesicoureteral reflux and the extracellular matrix connection.

Authors:  Fatima Tokhmafshan; Patrick D Brophy; Rasheed A Gbadegesin; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2016-05-02       Impact factor: 3.714

4.  Congenital cutis laxa with retardation of growth and development.

Authors:  M A Patton; J Tolmie; P Ruthnum; S Bamforth; M Baraitser; M Pembrey
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

Authors:  D Bonneau; J L Huret; G Godeau; D Couet; M Putterman; J Tanzer; P Babin; M Larrègue
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease.

Authors:  Abdulrhman Saleh Dairi; Mohammad Shihata; Abdulbadee A Bogis; Mohammad Alrefai; Uthman Aluthman; Ahmed Jamjoom
Journal:  Cureus       Date:  2021-11-08

7.  Cutis laxa: a report of two interesting cases.

Authors:  Subhabrata Mitra; Amit Amit Agarwal; Jayanta Kumar Das; Asok Gangopadhyay
Journal:  Indian J Dermatol       Date:  2013-07       Impact factor: 1.494

8.  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

  8 in total

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