Schneckenbecken dysplasia
Medical condition / From Wikipedia, the free encyclopedia
Schneckenbecken dysplasia is a rare pre-natally fatal hereditary autosomal recessive condition which affects the bones and pre-natal growth.
Quick Facts Other names, Specialty ...
Schneckenbecken dysplasia | |
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Other names | Chondrodysplasia lethal neonatal with snail like pelvis[1] |
This condition is inherited following an autosomal recessive manner. | |
Specialty | Medical genetics |
Symptoms | Short-limbed dwarfism and prenatal death associated with various other radiological anomalies |
Complications | Prenatal death |
Usual onset | Birth |
Duration | Pregnancy |
Causes | Genetic mutation |
Diagnostic method | Genetic testing, ultrasound, autopsy |
Prevention | none |
Prognosis | Poor |
Frequency | rare, about 20 cases have been described |
Deaths | all cases of Schneckenbecken dysplasia have been dead fetuses. |
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