Achondrogenesis Type 1B.

Détails

ID Serval
serval:BIB_92793DE867B3
Type
Partie de livre
Sous-type
Chapitre: chapitre ou section
Collection
Publications
Institution
Titre
Achondrogenesis Type 1B.
Titre du livre
GeneReviews [Internet]
Auteur(s)
Bonafé L., Mittaz Crettol L., Ballhausen D., Superti-Furga A.
Editeur
University of Washington
Lieu d'édition
Seattle
Statut éditorial
Publié
Date de publication
2002
Editeur scientifique
Pagon R.A., Bird T.C., Dolan C.R., Stephens K.
Pages
online
Edition
September 22
Langue
anglais
Notes
Publication Status: ppublish Initial Posting: August 30, 2002; Last Update: Sept 22, 2009.
Résumé
DISEASE CHARACTERISTICS: 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.
DIAGNOSIS/TESTING: The diagnosis of ACG1B rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene known to be associated with ACG1B. Molecular genetic testing is available on a clinical basis.
MANAGEMENT: Treatment of manifestations: palliative care for liveborn neonates.
GENETIC COUNSELING: 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.
Pubmed
Création de la notice
08/09/2011 21:35
Dernière modification de la notice
17/06/2021 6:35
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