A skeletal dysplasia which is seen rarely: Achondrogenesis tip 1A Ender görülen bir i̇skelet displazisi: Akondrogenezis tip 1A (Houston-Harris)


Usta T., Öztarhan A., MADAZLI R. , Aksoy F., Sidal B.

Jinekoloji ve Obstetrik Dergisi, cilt.20, sa.2, ss.117-120, 2006 (Diğer Kurumların Hakemli Dergileri) identifier

  • Cilt numarası: 20 Konu: 2
  • Basım Tarihi: 2006
  • Dergi Adı: Jinekoloji ve Obstetrik Dergisi
  • Sayfa Sayıları: ss.117-120

Özet

Achondrogenesis, which is rarely observed in lethal skeletal dysplasia, has autosomal recessive inheritance. An achondrogenesis type 1A case, that was diagnosed prenatally by ultrasonography and was confirmed by radiological and pathological working at postmortem stage is presented. Achondrogenesis has a risk of recurrence because of autosomal recessive inheritance so that the pregnancy must be terminated when it is diagnosed and genetic counseling must be given to the families. In this case, the mother who had previously lost two fetus with similar anomalies wasn't researched enough. If Achondrogenesis which is letal skeletal displasia is suspected during prenatal examination, these cases must be researched. After diagnosis, giving genetic counseling to these mothers could reduce the future occurence of this disease like other genetic illnesses and/or in future pregnancies.