Journal of Cardiovascular Disease Research
AARSKOG Scott Syndrome Presenting As Syndromic Growth Failure and Speech Delay
Gururaja R , Ashish Kumar Gupta ,RPS Tomar ,Sonam Sahu,ID Khan
JCDR. 2023: 141-142
Abstract
Aarskog Scott syndrome is a rare disorder characterized by facial, skeletal and genital abnormalities, intellectual disability and short stature. It has X-linked recessive inheritance primarily affecting males though female carriers can manifest subtle signs. We report a case associated with prematurity, low birth weight, severe developmental delay, congenital heart disease (OS-ASD) and clinodactyly of all limbs.
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