Abstract
Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)
Citation Formats
Andersen, Jr, P E, Hauge, M, and Bang, J.
Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis.
Germany: N. p.,
1988.
Web.
Andersen, Jr, P E, Hauge, M, & Bang, J.
Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis.
Germany.
Andersen, Jr, P E, Hauge, M, and Bang, J.
1988.
"Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis."
Germany.
@misc{etde_7141373,
title = {Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis}
author = {Andersen, Jr, P E, Hauge, M, and Bang, J}
abstractNote = {Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)}
journal = []
volume = {17:1}
journal type = {AC}
place = {Germany}
year = {1988}
month = {Jan}
}
title = {Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis}
author = {Andersen, Jr, P E, Hauge, M, and Bang, J}
abstractNote = {Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)}
journal = []
volume = {17:1}
journal type = {AC}
place = {Germany}
year = {1988}
month = {Jan}
}