Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has...

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Bibliographic Details
Published in:Clinical genetics 2000-02, Vol.57 (2), p.148-150
Main Authors: Becker, R, Wegner, R-D, Kunze, J, Runkel, S, Vogel, M, Entezami, M
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
clinical variability
Diseases of the osteoarticular system
Facies
Fathers
Female
Fetus - abnormalities
Gestational Age
Humans
Larsen syndrome
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Phenotype
Prenatal Diagnosis
sonographic features
Syndrome
Ultrasonography, Prenatal
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Summary:Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2000.570210.x