Lethal recessive chondrodysplasia
Synonyms: Maroteaux-Stanescu-Cousin syndrome
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism short and incurved limbs with normal hands and feet facial dysmorphism (disproportionately large skull frontal prominence slightly flattened nasal bridge and short neck) muscular hypotonia hyperlaxity of the extremities and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Lethal recessive chondrodysplasia?
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