Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 22-week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed.
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PMID:Lethal multiple pterygium syndrome: report of a case with neurological anomalies. 836 51