Abstracto

Cornelia De Lange Syndrome with Hypertrichosis in 4-Month-Old Infant: A Case Report

Abdulmoein Eid Al-Agha

Hair may be a distinctive character of mammals and has various functions. There are approximately 100,000 to 150,000 hair follicles found within the human scalp. Skin produces hair everywhere the body with the exception of the only of the foot, palm of the hand, buccal surface of the lip, and parts of the external genitalia. We report the case of a 4-month-old Saudi girl delivered to our pediatric endocrinology service due to generalized hypertrichosis. She was noted to possess dysmorphic features and underwent laboratory investigations with resonance imaging (MRI) of the lumbosacral spine. On the idea of those findings, Cornelia de Lange syndrome was diagnosed and genetic counselling was provided to the family.