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

A M Norman; S Rimmer; S Landy; D Donnai

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

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

Authors

A M Norman¹, S Rimmer, S Landy, D Donnai

Affiliation

¹ Regional Genetic Service, St Mary's Hospital, Manchester, UK.

PMID: 1345514

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Female
Fetus / abnormalities
Humans
Infant, Newborn
Male
Radiography
Thanatophoric Dysplasia* / classification
Thanatophoric Dysplasia* / diagnostic imaging
Thanatophoric Dysplasia* / genetics