H Syndrome with Atypical Presentation - A Diagnostic Enigma

• मुख्य लेखकों: Sowmya S. Aithal (लेखक), Vinupriya Sakkaravarthi (लेखक), K. Gopalakrishnan (लेखक), Anitha Chakravarthy (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wolters Kluwer Medknow Publications, 2024-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...