A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.

Pyknodysostosis (PKND), also referred to as Toulouse-Lautrec Syndrome, is a rare autosomal recessive disorder marked by short limbs, short stature, and generalized bone sclerosis. The hallmark signs of this disorder include sclerosis of the terminal phalanges, persistent fontanelles, delayed suture closure, wormian bones, absence of frontal sinuses, obtuse mandibular gonial angle, and relative mandibular prognathism. This case report elucidates a 13-year-old boy presenting with systemic features such as short stature, frontal and parietal bossing, depressed nasal bridge, a beaked nose, hypoplastic midface, wrinkled skin on the fingertips, and nail abnormalities. The oro-dental manifestations include deep palate, prominent palatal rugae, constricted maxillary arch, proclined maxillary anterior teeth and Class III skeletal profile. Radiographic findings showed hypoplastic paranasal sinuses, atrophic mandible, taurodontism, impacted permanent teeth along with several retained deciduous molars. This case highlights the need for vigilance in identifying the dental and systemic signs of PKND, emphasizing the importance of early diagnosis and tailored treatment strategies to improve patient outcomes. Key words:Pyknodysostosis, Toulouse-Lautrec syndrome, Dental management.