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 been diagnosed only by typical sonographic features in an affected fetus.
Becker
R
R
Free University of Berlin, Klinikum Benjamin Franklin, Germany.
Wegner
R D
RD
Kunze
J
J
Runkel
S
S
Vogel
M
M
Entezami
M
M
D000328:Adult; D019066:Facies; D005220:Fathers; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005865:Gestational Age; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal