The Langer-Giedion syndrome: report of a 22-year old woman

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest p...

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Veröffentlicht in:Pediatrics (Evanston) 1979-10, Vol.64 (4), p.542-545
Hauptverfasser: Wilson, W G, Herrington, R T, Aylsworth, A S
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container_title Pediatrics (Evanston)
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creator Wilson, W G
Herrington, R T
Aylsworth, A S
description A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.
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source MEDLINE; EZB-FREE-00999 freely available EZB journals
subjects Adult
Epiphyses - abnormalities
Exostoses, Multiple Hereditary - complications
Face
Female
Growth Disorders - complications
Humans
Intellectual Disability - complications
Microcephaly - complications
Puberty
Time Factors
title The Langer-Giedion syndrome: report of a 22-year old woman
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