H Syndrome with Atypical Presentation - A Diagnostic Enigma

• Main Authors: Sowmya S. Aithal (Author), Vinupriya Sakkaravarthi (Author), K. Gopalakrishnan (Author), Anitha Chakravarthy (Author)
• 格式: 图书
• 出版: Wolters Kluwer Medknow Publications, 2024-07-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

H syndrome is a rare autosomal recessive genodermatosis characterized by cutaneous manifestations and other systemic involvement. It presents with features like hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hallux valgus, hyperglycemia, low height, hypogonadism, and heart anom...