Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thanatophoric dysplasia 2

Thanatophoric dysplasia 2 is an autosomal dominant disorder caused by mutations of the FGFR3 gene. It is characterized by a short-limb dwarfism. Typical of type 2 is a relatively long femur and a cloverleaf skull. The disease is lethal in the perinatal period.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2
FGFR3

References:

1.

Tavormina PL et al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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2.

Wilcox WR et al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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3.

Lin T et al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II.

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4.

Li D et al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester.

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5.

Norman AM et al. (1992) Thanatophoric dysplasia of the straight-bone type (type 2).

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6.

None (1989) Prevalence of lethal osteochondrodysplasias in Denmark.

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7.

Partington MW et al. (1971) Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

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8.

Isaacson G et al. (1983) Thanatophoric dysplasia with cloverleaf skull.

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9.

Horton WA et al. (1983) Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia.

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10.

OMIM.ORG article

Omim 187601 [^]
11.

Orphanet article

Orphanet ID 2655 [^]
12.

Wikipedia article

Wikipedia EN (Thanatophoric_dysplasia) [^]
Update: April 29, 2019