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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
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O
Eur J Med Genet 2019 Nov;62(11):103573. Epub 2018 Nov 10 doi: 10.1016/j.ejmg.2018.11.007. PMID: 30423444
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

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
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
Odent S, Loget P, Le Marec B, Delezoïde AL, Maroteaux P
J Med Genet 1999 Apr;36(4):330-2. PMID: 10227404Free PMC Article
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
Genetic skeletal dysplasia in Thailand: the Siriraj experience.
Wasant P, Waeteekul S, Rimoin DL, Lachman RS
Southeast Asian J Trop Med Public Health 1995;26 Suppl 1:59-67. PMID: 8629144

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
Prenatal diagnosis of boomerang dysplasia.
Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ
Am J Med Genet A 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239. PMID: 12955767
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
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
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation.
Ueno K, Tanaka M, Miyakoshi K, Zhao C, Shinmoto H, Nishimura G, Yoshimura Y
Prenat Diagn 2002 Dec;22(12):1071-5. doi: 10.1002/pd.470. PMID: 12454961
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
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
Am J Hum Genet 1996 Feb;58(2):255-62. PMID: 8571951Free PMC Article

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
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
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Rossi A, Cetta G, Piazza R, Bonaventure J, Steinmann B, Supereti-Furga A
Pediatr Pathol Mol Med 2003 Jul-Aug;22(4):311-21. doi: 10.1080/pdp.22.4.311.321. PMID: 14692227
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
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
Am J Hum Genet 1996 Feb;58(2):255-62. PMID: 8571951Free PMC Article

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