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Article

Thanatophoric dysplasia type I.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000

Chang T K, Wang Y, Liu A M, Tung J C

Abstract excerpt

Thanatophoric dysplasia is a sporadic, nearly always lethal congenital skeletal dysplasia. It is characterized by shortening of the limbs, a severely small thorax, macrocephaly, and platyspondyly. There are two major subtypes: a short, curved femur characterizes type I, and a straighter femur wit...

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PMID: 11270184

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11270184-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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