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De la Chapelle dysplasia(DLCD)

MedGen UID:
342529
•Concept ID:
C1850555
•
Disease or Syndrome
Synonyms: Atelosteogenesis De La Chapelle Type; De La Chapelle Dysplasia; McAlister Dysplasia
 
Monarch Initiative: MONDO:0800307
OMIM®: 256050; 606718

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

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

De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].
Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J
Clin Dysmorphol 1994 Oct;3(4):318-27. PMID: 7632220
de la Chapelle dysplasia.
Whitley CB, Burke BA, Granroth G, Gorlin RJ
Am J Med Genet 1986 Sep;25(1):29-39. doi: 10.1002/ajmg.1320250105. PMID: 3799721

Prognosis

De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].
Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J
Clin Dysmorphol 1994 Oct;3(4):318-27. PMID: 7632220

Clinical prediction guides

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
de la Chapelle dysplasia.
Whitley CB, Burke BA, Granroth G, Gorlin RJ
Am J Med Genet 1986 Sep;25(1):29-39. doi: 10.1002/ajmg.1320250105. PMID: 3799721

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