SIRENOMELIA / MERMAID SYNDROME / SIRENOMELIA SYNDROME : SIRENOMELIA/ MERMAID SYNDROME IS AN EXTREMELY RARE CONGENITAL DEVELOPMENTAL DISORDER CHARACTERISED BY ANOMALIES OF THE LOWER SPINE AND LOWER LIMBS. ADDITIONAL MALFORMATIONS CAN OCCUR INCLUDING GENITOURINARY ABNORMALITIES, GASTROINTESTINAL ABNORMALITIES, ANOMALIES OF THE LUMBOSACRAL SPINE AND PELVIS AND AGENESIS OF ONE OR BOTH KIDNEYS. PATHOGENESIS : Although the primary molecular defect resulting in sirenomelia remains unclear, two main pathogenic hypothesis namely THE VASCULAR STEAL HYPOTHESIS & THE DEFECTIVE BLASTOGENESIS HYPOTHESIS are proposed. According to the VASCULAR STEAL HYPOTHESIS , fusion of the lower limbs results from a deficient blood flow and nutrient supply to the caudal modern , which in turn results in agenesis of midline structures and subsequent abnormal approximation of both lower limbs. IN DEFECTIVE BLASTOGENESIS HYPOTHESIS, the primary defect in development of caudal mesoderm is attributed to a teratogenic event during the gastrulation stageSuch a defect interferes with the formation of notochord, resulting in abnormal development of caudal structures. SIGNS & SYMPTOMS. 1 ) Fused legs or absent foot structures. 2 ) Unilateral or bilateral renal agenesis. 3 ) Vertebral / spine abnormalities. 4 ) Absence of external genitilia. 5 ) Underdeveloped reproductive system. 6 ) Cardiomegaly. 7 ) Immature / abnormal lungs. 8 ) Absence of bladder, small and large intestines and other organs. 9 ) Urethral agenesis. Genitourinary and gastrointestinal malformations are seen. PRENATAL DIAGNOSIS : Severe oligohydramnios, renal agenesis, congenital heart defects, skeletal abnormalities, single umbilical artery, absence of external genitilia, urethra and anus , single lower extremity . CLASSIFICATION OF SIRENOMELIA : CLASSIFICATION ACCORDING TO STOCKER & HEIFETZ 1987. Classified according to the presence of skeletal elements in the thigh and leg. TYPE I : All thigh and leg bones present. TYPE II : Single fibula. TYPE III: Absent fibula. TYPE IV : Partially fused femurs, fused fibulae. TYPE V : Partially fused femurs. TYPE VI : Single femur, single tibia. TYPE VII: Single femur and absent tibia. Another classification is based on the presence or absence of feet. SYMPUS DIPUS/ SYMMELIA: two feet are present. SYMPUS MONOPUS / UROMELIA : Only one foot is present. SYMPUS APUS : No evidence of any distal foot element. Here ,I would like to share a case of mine . 22 year old, G2 P1 L1 , First normal delivery and healthy alive baby. Non consanguinous marriage. Severe oligohydramnios, absent renal arteries, cardiomegaly and single umbilical artery are scan findings at 27 weeks. Terminated the pregnancy. Diagnosed as sirenomelia after delivery. This baby had the following FEATURES. 1 . Single lower extremity. 2 . Absent anus. 3 . Absent urethra. 4 . Absent external genitilia. 5 . Single umbilical artery . 6 . Single femur and tibia on X - Ray. 7 . Pelvis incomplete.

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Thank you for sharing

Nice information

Nice information m

Mam
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Thanks madam for sharing n explanation... Baby live??? Is there any treatment ... please guide

It is a dead baby terminated at 27 weeks. Most of these have multiple anomalies incompatible with life and die in utero or immediately after delivery. There are few people alive till 10 years age. . Surgical correction of deformities can be done like separation of fused legs , renal transplant etc, but sirenomelia is usually fatal in the newborn period despite treatment.
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Nice post.

Very rare case thanks for sharing mam

Nice case mam...thanx for sharing

Thanks for sharing.informative post mam

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