Acromegaloid Facial Appearance Syndrome: A New Case in India.
- Author:
Arpita RAI
1
;
Atul P SATTUR
;
Venkatesh G NAIKMASUR
Author Information
- Publication Type:Case Report
- Keywords: Acromegaloid Facial Appearance Syndrome; Hughe's syndrome; polydactyly
- MeSH: Acromegaly; Eyebrows; Facies; Humans; Hypertrichosis; India; Limb Deformities, Congenital; Lip; Male; Mouth Mucosa; Nails; Nose; Polydactyly; Tongue, Fissured; Tooth
- From:Journal of Genetic Medicine 2013;10(1):57-61
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
