Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short-rib thoracic dysplasia with or without polydactyly 12

Short-rib thoracic dysplasia with or without polydactyly type 12 is a hereditary disorder with not yet clarified genetic background.

Systematic

Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
Short-rib thoracic dysplasia with or without polydactyly 03
Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly 06
Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly 09
Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly 16
Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly 18
Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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2.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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3.

Huber C et al. (2012) Ciliary disorder of the skeleton.

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4.

Beighton P et al. (1992) International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone.

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5.

Yang SS et al. (1991) Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.

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6.

Lin AE et al. (1991) Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

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7.

None (1991) Short rib syndrome--Beemer type in sibs.

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8.

Balci S et al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

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9.

None (1988) A lethal short rib syndrome without polydactyly.

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10.

None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.

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11.

Beemer FA et al. (1983) A new short rib syndrome: report of two cases.

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12.

None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

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13.

Cideciyan D et al. (1993) New findings in short rib syndrome.

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14.

Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

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15.

Kovács N et al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

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16.

OMIM.ORG article

Omim 269860 [^]
Update: April 29, 2019