Oct 19, 2023
Farnesylation Process
METHYLATED FARNESYL GROUP
1. DERMATOLOGICAL MANIFESTATIONS
FAILURE TO THRIVE
2. OCULAR ABNORMALITIES
3. CRANIOFACIAL AND DENTAL ABNORMALITIES
4. BONY AND CARTILAGINOUS ABNORMALITIES
5. HEARING ABNORMALITIES
6. SEXUAL DEVELOPMENT
7. CVS INVOLVEMENT
CAUSES OF DEATH
INVESTIGATIONAL FINDINGS IN PROGERIA
Progeria is a rare genetic syndrome characterized by premature aging. It is also called Hutchinson-Gilford Progeria Syndrome (HGPS). It is fatal and inherited in nature. It is a rare syndrome with incidence recorded in one in four million live births, and its prevalence is one in 20 million living individuals. The syndrome does not show a predilection for gender, region, or ethnicity.
Also Read: The Genetics of Down Syndrome
Skin is the first organ to undergo pathological changes. Children lose hair resulting in alopecia on the head and eyebrows within the first few months of birth. Skin loses subcutaneous fat and becomes abnormally thin. They exhibit areas of mottled hyperpigmentation, sometimes alternating with hypopigmentation. Contractures in the hands associated with significant nail dystrophy are present in more than 60% of cases.
Also Read : Pigmentary Disorders in Children
TREATMENT OF PROGERIA
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