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Atelosteogenesis

MedGen UID:
1806597
•Concept ID:
C5574658
•
Congenital Abnormality
Synonym: atelosteogenesis
SNOMED CT: Atelosteogenesis (43814000)
 
Related genes: FLNB, SLC26A2
 
Monarch Initiative: MONDO:0000389
OMIM® Phenotypic series: PS108720

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100

Recent clinical studies

Etiology

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Filamin B: The next hotspot in skeletal research?
Xu Q, Wu N, Cui L, Wu Z, Qiu G
J Genet Genomics 2017 Jul 20;44(7):335-342. Epub 2017 Jul 6 doi: 10.1016/j.jgg.2017.04.007. PMID: 28739045
Atelosteogenesis type I: autopsy findings.
Wessels A, Wainwright HC, Beighton P
Pediatr Dev Pathol 2011 Nov-Dec;14(6):496-500. Epub 2011 Oct 10 doi: 10.2350/11-01-0969-CR.1. PMID: 21985323
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L
Clin Genet 2011 Dec;80(6):550-7. Epub 2010 Dec 13 doi: 10.1111/j.1399-0004.2010.01595.x. PMID: 21155763
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349

Diagnosis

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P
Cesk Patol 2023 Summer;59(2):68-79. PMID: 37468326
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Atelosteogenesis type III: orthopedic management.
Sarikaya IA, Gorgun B, Erdal OA
J Pediatr Orthop B 2017 Nov;26(6):546-551. doi: 10.1097/BPB.0000000000000338. PMID: 27258362
Atelosteogenesis type I: autopsy findings.
Wessels A, Wainwright HC, Beighton P
Pediatr Dev Pathol 2011 Nov-Dec;14(6):496-500. Epub 2011 Oct 10 doi: 10.2350/11-01-0969-CR.1. PMID: 21985323
Atelosteogenesis type 2.
Newbury-Ecob R
J Med Genet 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. PMID: 9475095Free PMC Article

Prognosis

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H
Molecules 2020 Nov 26;25(23) doi: 10.3390/molecules25235543. PMID: 33255942Free PMC Article
Atelosteogenesis type I: autopsy findings.
Wessels A, Wainwright HC, Beighton P
Pediatr Dev Pathol 2011 Nov-Dec;14(6):496-500. Epub 2011 Oct 10 doi: 10.2350/11-01-0969-CR.1. PMID: 21985323
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100

Clinical prediction guides

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H
Molecules 2020 Nov 26;25(23) doi: 10.3390/molecules25235543. PMID: 33255942Free PMC Article
Atelosteogenesis type I: autopsy findings.
Wessels A, Wainwright HC, Beighton P
Pediatr Dev Pathol 2011 Nov-Dec;14(6):496-500. Epub 2011 Oct 10 doi: 10.2350/11-01-0969-CR.1. PMID: 21985323
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
Pediatr Radiol 1997 May;27(5):388-96. doi: 10.1007/s002470050154. PMID: 9133349

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