Literature DB >> 7891385

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.

M Bueno1, G Oliván, A Jiménez, J M Garagorri, A Sarría, A L Bueno, M Bueno1, F J Ramos.   

Abstract

We report the first observation of sclerosteosis in Spain. To the best of our knowledge, this is the first case of sclerosteosis in a person of Mediterranean origin with no known Dutch ancestors. He has the characteristic phenotype of the disease with right facial nerve palsy and syndactyly and the typical radiological features, including generalised bone sclerosis and cortical widening of the tubular bones.

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Year:  1994        PMID： 7891385      PMCID： PMC1016704          DOI： 10.1136/jmg.31.12.976

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


  6 in total

1.  [Further information on marble bones (Albers-Schönberg disease) with remarks on differential diagnosis].

Authors:  G PIETRUSCHKA
Journal:  Klin Monbl Augenheilkd Augenarztl Fortbild       Date:  1958

2.  Sclerosteosis in South Africa.

Authors:  P Beighton; H Hamersma
Journal:  S Afr Med J       Date:  1979-05-12

3.  Sclerosteosis. A case report.

Authors:  Y Sugiura; T Yasuhara
Journal:  J Bone Joint Surg Am       Date:  1975-03       Impact factor: 5.284

Review 4.  Sclerosing bone dysplasias--a target-site approach.

Authors:  A Greenspan
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

5.  The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals.

Authors:  P Beighton; L Durr; H Hamersma
Journal:  Ann Intern Med       Date:  1976-04       Impact factor: 25.391

6.  Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.

Authors:  S A Stein; C Witkop; S Hill; M D Fallon; L Viernstein; G Gucer; P McKeever; D Long; J Altman; N R Miller; S L Teitelbaum; S Schlesinger
Journal:  Neurology       Date:  1983-03       Impact factor: 9.910
  6 in total
  11 in total

Review 1.  A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Authors:  Kevin A Maupin; Casey J Droscha; Bart O Williams
Journal:  Bone Res       Date:  2013-03-29       Impact factor: 13.567

2.  Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Authors:  W Balemans; J Van Den Ende; A Freire Paes-Alves; F G Dikkers; P J Willems; F Vanhoenacker; N de Almeida-Melo; C F Alves; C A Stratakis; S C Hill; W Van Hul
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

Review 3.  Sclerostin: therapeutic horizons based upon its actions.

Authors:  Aline G Costa; John P Bilezikian
Journal:  Curr Osteoporos Rep       Date:  2012-03       Impact factor: 5.096

4.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Authors:  M E Brunkow; J C Gardner; J Van Ness; B W Paeper; B R Kovacevich; S Proll; J E Skonier; L Zhao; P J Sabo; Y Fu; R S Alisch; L Gillett; T Colbert; P Tacconi; D Galas; H Hamersma; P Beighton; J Mulligan
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

5.  Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.

Authors:  Olivier Leupin; Elke Piters; Christine Halleux; Shouih Hu; Ina Kramer; Frederic Morvan; Tewis Bouwmeester; Markus Schirle; Manuel Bueno-Lozano; Feliciano J Ramos Fuentes; Peter H Itin; Eveline Boudin; Fenna de Freitas; Karen Jennes; Barbara Brannetti; Nadine Charara; Hilmar Ebersbach; Sabine Geisse; Chris X Lu; Andreas Bauer; Wim Van Hul; Michaela Kneissel
Journal:  J Biol Chem       Date:  2011-04-06       Impact factor: 5.157

6.  Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Authors:  W Balemans; N Patel; M Ebeling; E Van Hul; W Wuyts; C Lacza; M Dioszegi; F G Dikkers; P Hildering; P J Willems; J B G M Verheij; K Lindpaintner; B Vickery; D Foernzler; W Van Hul
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

Review 7.  Wnt and the Wnt signaling pathway in bone development and disease.

Authors:  Yiping Wang; Yi-Ping Li; Christie Paulson; Jian-Zhong Shao; Xiaoling Zhang; Mengrui Wu; Wei Chen
Journal:  Front Biosci (Landmark Ed)       Date:  2014-01-01

8.  Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist.

Authors:  Rutger L van Bezooijen; Bernard A J Roelen; Annemieke Visser; Lianne van der Wee-Pals; Edwin de Wilt; Marcel Karperien; Herman Hamersma; Socrates E Papapoulos; Peter ten Dijke; Clemens W G M Löwik
Journal:  J Exp Med       Date:  2004-03-15       Impact factor: 14.307

9.  Management of trigeminal neuralgia in sclerosteosis.

Authors:  Emerson Magno de Andrade; André Beer-Furlan; Kleber Paiva Duarte; Erich Talamoni Fonoff; Manoel Jacobsen Teixeira
Journal:  Surg Neurol Int       Date:  2013-11-20

Review 10.  The Genetic Architecture of High Bone Mass.

Authors:  Celia L Gregson; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2020-10-29       Impact factor: 5.555
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