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Query: UMLS:C0403608 (ureter)
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Sirenomelia is an extremely complex and rare malformation with different degrees of lower-extremities fusion associated with gastrointestinal, musculoskeletal, vascular, cardiopulmonary, and central nervous system malformations. In the English literature, there are only 5 reports of infants surviving with this condition. In our case, a 2540-g female infant was born with normal vital signs, no facial dysmorphism, and a complete soft tissue fusion of the lower limbs, from perineum to ankles. Radiologic examinations revealed an intestinal atresia and a single pelvic kidney, with a unique ureter, 2 femurs, 2 tibias, 2 fibulas, and 2 feet (simpus dipus). At 7 months of age, a multidisciplinary surgical team achieved complete separation of the lower limbs, with independent vascular and nerve supplies. At the time of this writing, the infant was 28 months old and had a regular growth curve. Many future reconstructive surgeries have been planned to achieve an acceptable quality of life for this infant.
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PMID:Multidisciplinary surgical approach to a surviving infant with sirenomelia. 1680 93

Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins. This case was a preterm male, dizygotic twin and product of in vitro fertilisation. The baby was born by caesarean section due to breech presentation. He was found to have a fused lower extremity and absent external genitalia and anus. The baby passed away shortly after birth due to severe respiratory failure. Radiographic findings showed small lung volume and pneumothoraces. There were multiple segmental fusions of the vertebrae. Single femur and single tibia were presented in a fused lower limb. Autopsy demonstrated large intestinal atresia, intra-abdominal testes, absence of kidney, ureter and bladder, single umbilical artery, agenesis of blood vessels at lower extremity and agenesis of sacrum and coccyx.
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PMID:Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. 2597 91

Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature.
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PMID:Sirenomelia (Mermaid Syndrome): A Case Report. 3252 13