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ISSN Print: 2394-7500, ISSN Online: 2394-5869, CODEN: IJARPF

Impact Factor: RJIF 8.4

International Journal of Applied Research

Vol. 3, Issue 3, Part F (2017)

Hutchinson - Gilford progeria syndrome: A rare case report of two siblings

Author(s)
Dr. Sanket Nale, Dr. Sumeet Mahajan, Dr. Sharad Agarkhedkar, Dr. Sanjay Chavan, Dr. Suhas Sodal and Dr. Ketaki Balsaraf
Abstract
Hutchinson-Gilford progeria syndrome (progeria) is a rare, fatal, autosomal dominant also autosomal recessive, segmental syndrome which has striking feature resembling premature aging. Children develop the appearance of accelerated aging involving the skin, bones, heart, and blood vessels. We report two male siblings of age 8 years and 13 years with clinical manifestations characteristic of this syndrome. Both had characteristic features like frontal bossing, prominent eyes, pointed nose and dilated visible scalp veins, sparse immature scalp hair, no eyebrows, and scant eyelashes, micrognathia, stunted growth, senile look, and mottled pigmentation over the trunk and lower limbs, coxa valga, “Horse riding stance”, club foot acroosteolysis of distal phalanges, high pitched voice, intelligence quotient (IQ) corresponding to their age. We present these two cases of progeria with all the classical physical & radiological findings
Pages: 351-354  |  813 Views  24 Downloads
How to cite this article:
Dr. Sanket Nale, Dr. Sumeet Mahajan, Dr. Sharad Agarkhedkar, Dr. Sanjay Chavan, Dr. Suhas Sodal, Dr. Ketaki Balsaraf. Hutchinson - Gilford progeria syndrome: A rare case report of two siblings. Int J Appl Res 2017;3(3):351-354.
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