Abstract
BackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.
Highlights
BackgroundSirenomelia is a rare congenital anomaly in which the most noticeable feature is fusion of the lower limbs, resulting in the appearance of a mermaid’s tail, and the name mermaid syndrome
Sirenomelia, called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies
This report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring
Summary
Sirenomelia is a rare congenital anomaly in which the most noticeable feature is fusion of the lower limbs, resulting in the appearance of a mermaid’s tail, and the name mermaid syndrome. This syndrome is characterized by severe urogenital abnormalities and the presence of a singular umbilical cord blood vessel. There was no report of diabetes mellitus (DM) or other anomalies in the mother’s medical history or familial medical history Their marriage was non-consanguineous, and the mother had not had exposure to any intrinsic or extrinsic factors (such as teratogenic drug intake) associated with sirenomelia during her pregnancy. The follow-up to her fourth pregnancy indicated that she gave birth to a normal baby
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