Definition:
Phocomelia is a malformation of the upper appendage of the arm or the leg is omitted with the hands or the legs directly attached to the body. This is a congenital defect also described as seal's flippers.
Diagnosis:
Phocomelia can be diagnosed even during pregnancy. Ultrasound images are used to check for defects in the fetus' fingers, arms, heart and other vital parts of the fetus.
Treatment:
Although still not effective in treating the condition in the aspect of functionality, few apply prosthetics as an alternative limbs or other various body parts missing. The latest is the use of myoelectric limbs which can detect electric signals sent by the nervous system and the muscles which will then allow the patient to move the affected limbs.
Symptoms and Signs:
Very commonly, the symptom of phocomelia are undeveloped limbs which includes either the leg or arm. Patients also don't pelvic bones. Phocomelia can also cause other abnormalities because of the absent limbs. These defects may include short arm bones, fingers fused together, and sometimes a missing thumb. Generally, people with phocomelia will also suffer retarded growth and can also be the cause of some mental deficiencies. In severe cases, phocomelia symptoms would include ecephalocele, spinal fluid ccumulation below the skull, bicornate uterus, inefficient blood clotting ability, heart and kidney malformations, short neck, and abnormal urethra.
Causes:
Despite the various factors attributed to may have cause phocomelia, the most common cause is the use of thalidomide drugs during pregnancy and also genetic inheritance.
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