Literature DB >> 562263

X-linked dysosteosclerosis. Four familial cases.

I Pascual-Castroviejo, C Casas-Fernandez, V Lopez-Martin, A Martinez-Bermejo.   

Abstract

Four Spanish children with clinical and radiological features corresponding to dysosteosclerosis are presented. All the children were male and belonged to the same family. The first known carrier is the maternal grandmother, who had three daughters by three different fathers who in turn had one or more sons with the disease. The four carriers were normal. Consanguinity did not occur in any case and the disorder was transmitted as a sex-linked recessive condition.

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Year:  1977        PMID: 562263     DOI: 10.1007/bf00442194

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


  3 in total

1.  Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.

Authors:  S A Temtamy; M R El-Meligh; H S Badrawy; M S Meguid; H M Safwat
Journal:  Birth Defects Orig Artic Ser       Date:  1974

2.  [A new bone syndrome with skin anomalies and neurologic disorders].

Authors:  C Roy; P Maroteaux; L Kremp; V Courtecuisse; D Alagille
Journal:  Arch Fr Pediatr       Date:  1968-10

3.  [Dysosteosclerosis--a special form of generalized osteosclerosis].

Authors:  J Spranger; C Albrecht; H J Rohwedder; H R Wiedemann
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1968-10
  3 in total
  4 in total

Review 1.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

2.  Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Authors:  Philippe M Campeau; James T Lu; Gautam Sule; Ming-Ming Jiang; Yangjin Bae; Simran Madan; Wolfgang Högler; Nicholas J Shaw; Steven Mumm; Richard A Gibbs; Michael P Whyte; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2012-08-08       Impact factor: 6.150

Review 3.  Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

Authors:  Michael P Whyte; Deborah Wenkert; William H McAlister; Deborah V Novack; Angie R Nenninger; Xiafang Zhang; Margaret Huskey; Steven Mumm
Journal:  J Bone Miner Res       Date:  2010-11       Impact factor: 6.741

4.  Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.

Authors:  Serap Turan; Steven Mumm; Ceren Alavanda; Betul Sare Kaygusuz; Busra Gurpinar Tosun; Ahmet Arman; Margaret Huskey; Tulay Guran; Shenghui Duan; Abdullah Bereket; Michael P Whyte
Journal:  JBMR Plus       Date:  2022-07-28
  4 in total

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