RESUMEN
Achondrogenesis is a type of skeletal dysplasia. Skeletal dysplasias are the heterogeneous class of bone growth disorders resulting in abnormal shape and size of the skeleton. Here, we present a rare case of achondrogenesis which was delivered by induced abortion at 6½ months of gestation. The physical, radiological, and ultrasonographic examinations done raised the possibility of this very rare anomaly. Achondrogensis is characterized by extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. This rare condition has got genetic mutations associated with it. Achondrogenesis resembles other chondrodystrophies, therefore, its diagnosis needs to be made promptly and accurately.
Asunto(s)
Acondroplasia/diagnóstico , Acondroplasia/epidemiología , Acondroplasia/genética , Acondroplasia/diagnóstico por imagen , Femenino , Humanos , Displasia Tanatofórica/diagnóstico , Displasia Tanatofórica/epidemiología , Displasia Tanatofórica/genética , Displasia Tanatofórica/diagnóstico por imagenRESUMEN
Anencephaly which is basically a misnomer used in place of meroencephaly for a long time is one of the most common birth defect that is seen in stillborn fetuses. It has multifactorial relations with environment , genetics as well as nutrition.It can be diagnosed by ultrasound, serum alfafetoprotein (AFP) level. The present study was done of a female aborted fetus of 32 weeks having anencephaly whose specimen was present in our department. So we planned to present a case report of this very anomaly with its development and genetic causes that lead to this lethal but preventable congenital defect.