• Journal of Genetic Medicine
• /
• 제10권1호
• /
• pp.57-61
• /
• 2013

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.