Atelosteogenesis Type 2

Détails

ID Serval
serval:BIB_F09BA7AC23CB
Type
Partie de livre
Collection
Publications
Titre
Atelosteogenesis Type 2
Titre du livre
GeneReviews(R)
Auteur⸱e⸱s
Bonafe L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A.
Editeur
NIH
Lieu d'édition
Seattle (WA)
Statut éditorial
Publié
Date de publication
1993
Editeur⸱rice scientifique
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.
Langue
anglais
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
Résumé
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midfaceretrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia. The diagnosis of AO2 rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene in which mutations are known to cause AO2. The diagnosis can be confirmed by molecular genetic testing of SLC26A2. Treatment of manifestations: Palliative care for liveborns. AO2 is inherited in an autosomal recessive manner. At conception, each sib of a proband with AO2 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. Ultrasound examination early in pregnancy is a reasonable complement or alternative to molecular genetic prenatal diagnosis.
Création de la notice
03/12/2015 11:03
Dernière modification de la notice
21/04/2023 6:53
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