Abstrato

Cornelia de lange syndrome with hypertrichosis in 4-month-old infant: A case report

Noor S Bawahab, Afnan A Bahamim, Abdulmoein E Al-Agha*

Hair is a distinctive character of mammals and has various functions. There are approximately 100,000 to 150,000 hair follicles found in the human scalp. Skin produces hair all over the body with the exception of the sole 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 brought to our pediatric endocrinology service because of generalized hypertrichosis. She was noted to have dysmorphic features and underwent laboratory investigations with magnetic resonance imaging (MRI) of the lumbosacral spine. On the basis of these findings, Cornelia de Lange syndrome was diagnosed and genetic counselling was provided to the family.