mermaid syndrome. medi
TRANSCRIPT
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MERMAID SYNDROME
MEDIANA SUTOPO LIEDAPRAJA
DEPARTEMEN OBSTETRI DAN GINEKOLOGI
FAKULTAS KEDOKTERAN UNIVERSITAS INDONESIA
NOVEMBER 2015
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• Mermaid syndrome known as sirenomelia• Sever form of caudal regression• Very rare congenital deformity ( 1: 100.000) legs are fused
together• Looks like mermaid’s tail• Fatal because complication abnormal kidney and bladder
development and function• Failure of vascular supply from lower aorta in utero
maternal diabetes
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ETIOLOGYThere are 2 theory:• In mice Causes by lacking Cyp26a1 ( enzyme that degrades
retinoic acid) reduced bone morphogenetic protein (Bmp)
In Human excess RA signaling and deficit BMP signaling in caudal body.• Primary defect in the generation of the mesoderm
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STOCKER AND HEIFETZ CLASSIFIED SIRENOMELIA INTO TYPE 1 TO TYPE VII.
( ACCORDING TO SKELETAL ELEMENTS THIGH AND LEG)
• Type I
All bones in two fused lime are present, fusion only affects superficial tissue
• Type VII
Most severe, only single bone is present with no indication of legs and feet.
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THANK YOU