Thanatophoric dysplasia of the straight-bone type ...[Clin Dysmorphol. 1992]

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1: Clin Dysmorphol. 1992 Apr;1(2):115-20.Links

Thanatophoric dysplasia of the straight-bone type (type 2).

Norman AM, Rimmer S, Landy S, Donnai D.

Regional Genetic Service, St Mary's Hospital, Manchester, UK.

We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.

PMID: 1345514 [PubMed - indexed for MEDLINE]

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[Am J Med Genet Suppl. 1987]
Thanatophoric dysplasia type II: new entity?
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[J Pediatr Orthop B. 1998]
Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature.
Pediatr Radiol. 1985; 15(6):412-4.

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Prevalence of lethal osteochondrodysplasias in Denmark.
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Review[Evidence of heterogeneity in dyssegmental dysplasia]
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Cited by 1 PubMed Central article

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, et al. Am J Hum Genet. 1999 Mar; 64(3):722-31.

[Am J Hum Genet. 1999]

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