Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554 Free PMC Article

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Recent clinical studies

Etiology

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA
Am J Med Genet A 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227. PMID: 20101693

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Diagnosis

The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature.

Lai S, Zhang X, Feng L, He M, Wang S
Medicine (Baltimore) 2020 Oct 16;99(42):e22533. doi: 10.1097/MD.0000000000022533. PMID: 33080687 Free PMC Article

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554 Free PMC Article

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D
Eur J Med Genet 2010 Jan-Feb;53(1):19-22. Epub 2009 Oct 4 doi: 10.1016/j.ejmg.2009.08.007. PMID: 19808103

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Therapy

Limb anomalies in chromosomal aberrations.

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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Prognosis

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.

Zaib T, Ji W, Saleem K, Nie G, Li C, Cao L, Xu B, Dong K, Yu H, Hao X, Xue Y, Si S, Jia X, Wu J, Zhang X, Guan R, Ji G, Bai J, Chen F, Liu Y, Sun W, Fu S
BMC Med Genet 2019 Dec 23;20(1):203. doi: 10.1186/s12881-019-0908-6. PMID: 31870337 Free PMC Article

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.

Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805 Free PMC Article

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error.

Zeng S, Patil SR, Yankowitz J
Am J Med Genet A 2003 Aug 1;120A(4):464-9. doi: 10.1002/ajmg.a.20189. PMID: 12884423

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