Abnormalities, multiple Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(5):257-260
DOI 10.1590/S0100-72032008000500008
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally the lower limbs. It is also associated with other severe skeletal and extraskeletal malformations. Karyotype study may reveal sex reversal. The majority of carriers die during the fetal and early neonatal periods. Ultrasound is essential to elucidate a prenatal diagnosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(5):257-260
DOI 10.1590/S0100-72032008000500008
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally the lower limbs. It is also associated with other severe skeletal and extraskeletal malformations. Karyotype study may reveal sex reversal. The majority of carriers die during the fetal and early neonatal periods. Ultrasound is essential to elucidate a prenatal diagnosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2007;29(11):588-592
DOI 10.1590/S0100-72032007001100007
This report describes an unusual case of spontaneous pregnancy in a patient with Müllerian anomaly. The patient was a 34-years old, white, nulligravida, with regular menstrual cycles, and suspected uterine septum observed during a routine ultrasonographic examination. The gynecological examination revealed a complete longitudinal vaginal septum and two uterine cervices. Three-dimensional pelvic ultrasonography showed cervix duplication, uterine septum from isthmus to endometrial cavity and absence of uterine body division, compatible with complete uterine septum and true dual cervices. She returned after one month and reported unprotected sexual intercourse and delayed menstrual period. She was pregnant, had a good pregnancy evolution, and delivered a healthy term baby girl, by cesarean section, at 37 weeks of pregnancy. This report describes a case of normal-term pregnancy in a patient with a rare anomaly (vaginal septum and two cervices) who became spontaneously pregnant without treatment.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2007;29(11):588-592
DOI 10.1590/S0100-72032007001100007
This report describes an unusual case of spontaneous pregnancy in a patient with Müllerian anomaly. The patient was a 34-years old, white, nulligravida, with regular menstrual cycles, and suspected uterine septum observed during a routine ultrasonographic examination. The gynecological examination revealed a complete longitudinal vaginal septum and two uterine cervices. Three-dimensional pelvic ultrasonography showed cervix duplication, uterine septum from isthmus to endometrial cavity and absence of uterine body division, compatible with complete uterine septum and true dual cervices. She returned after one month and reported unprotected sexual intercourse and delayed menstrual period. She was pregnant, had a good pregnancy evolution, and delivered a healthy term baby girl, by cesarean section, at 37 weeks of pregnancy. This report describes a case of normal-term pregnancy in a patient with a rare anomaly (vaginal septum and two cervices) who became spontaneously pregnant without treatment.
