Lethal multiple pterygium syndrome: report of a case with neurological anomalies

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 pon...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 47; no. 1; p. 45
Main Authors Spearritt, D J, Tannenberg, A E, Payton, D J
Format Journal Article
LanguageEnglish
Published United States 01.08.1993
Subjects
Abnormalities, Multiple - embryology
Arthrogryposis
Brain - abnormalities
Contracture - congenital
Female
Fetal Death
Gestational Age
Humans
Pterygium - congenital
Syndrome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320470110