Achondrogenesis Type 1B

Details

Serval ID
serval:BIB_968D7271C8FF
Type
A part of a book
Collection
Publications
Title
Achondrogenesis Type 1B
Title of the book
GeneReviews(R)
Author(s)
Bonafe L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A.
Publisher
PAGON R.A.
Address of publication
Seattle (WA)
Publication state
Published
Issued date
1993
Editor
Pagon  R. A., Adam  M. P., Ardinger  H. H., Wallace  S. E., Amemiya A., Bean  L. J. H., Bird  T. D., Fong  C. T., Mefford  H. C., Smith  R. J. H., Stephens K.
Language
english
Notes
Pagon, Roberta A
Adam, Margaret P
Ardinger, Holly H
Wallace, Stephanie E
Amemiya, Anne
Bean, Lora JH
Bird, Thomas D
Fong, Chin-To
Mefford, Heather C
Smith, Richard JH
Stephens, Karen
Bonafe, Luisa
Mittaz-Crettol, Laureane
Ballhausen, Diana
Superti-Furga, Andrea
Review
Book Chapter
Abstract
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth. The diagnosis of ACG1B rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene in which mutation is known to cause ACG1B. Treatment of manifestations: Palliative care for liveborn neonates. ACG1B is inherited in an autosomal recessive manner. At conception, each sib of a proband with ACG1B has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if both disease-causing alleles in the family are known and the carrier status of the parents has been confirmed. Ultrasound examination after 14-15 weeks' gestation can be diagnostic.
Create date
03/12/2015 10:03
Last modification date
13/12/2019 6:26
Usage data