Sirenomelia

Sirenomelia is a rare and fatal congenital defect characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia. We report a case of baby, born with narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery. When diagnosed antenatally, termination should be offered

Potter’s syndrome: a case report

Potter’s syndrome is a rare congenital disorder characterized by characteristic atypical appearance of a newborn due to the oligohydroamnios experienced during the intrauterine life. Its incidence varies from 1 in 2000 to 1 in 5000. 40 years old G7P4L1 A2 at 37 weeks of period of gestation was admitted at a tertiary care institute with labour pains. Her previous obstetric history included three full term vaginal deliveries, two of the babies expired in postnatal period of 2 months and 7 days age respectively. One was alive and healthy. In fourth pregnancy she underwent emergency LSCS, but baby expired 5 months after birth. She had history of 2 abortions which were spontaneous and not followed by curettage. She also gave history of intake of some drugs at 6th week of gestation prescribed by a local Baba to have a male child. Her ultrasonography revealed fetus with bilateral renal agenesis. On per abdomen examination, clinically liquor was very much reduced, Fetal heart sounds were not heard. She delivered vaginally a still born fetus with ambiguous genitalia, anal atresia and malformed limbs. The fetus had typical facial appearance of “potter facies”. Potter’s Syndrome or Sequence is a rare fatal disorder. Apart from typical Potter’s facies, pulmonary hypoplasia, skeletal deformities are associated with this condition, severity depends on the degree and duration of oligohydramnios. Therefore, it is very important to pick up this condition during antenatal ultrasound at earlier gestation so that timely decision regarding further workup and pregnancy termination can be undertaken. This case report emphasizes upon the importance of regular antenatal check ups and examination in each and every patient as it picks up the suspicious cases which can lead to further workup, definite diagnosis of the condition and timely decision regarding management.

Simpus Apus Sirenomelia – A case report of a rare congenital anomaly.

Sirenomelia, also known as “mermaid syndrome”, is a rare congenital deformity of uncertain etiology. Sirenomelia is characterized by complete or partial fusion of lower limbs, giving the appearance of the tail of a ‘mermaid’. This syndrome is almost always lethal due to associated congenital visceral abnormalities such as severe lung hypoplasia, and abnormalities of the kidneys, large intestines, and genitalia. We hereby, report a case of sirenomeila due to rarity of this condition and term live birth.

Antenatal Diagnosis of Bilateral Renal Agenesis with Potter’s Sequence: A Rare Case.

Bilateral renal agenesis is an uncommon prenatal diagnosis. It is a lethal anomaly with 50% of the fetuses being stillborn; the rest would die shortly after birth. It is also associated with many other congenital anomalies many of which have autosomal dominant or recessive inheritance. Absence of kidneys in renal fossae with pulmonary hypoplasia and oligohydramnios or anhydramnios strongly suggests the diagnosis of bilateral renal agenesis.