J Genet Med.  2013 Jun;10(1):57-61. 10.5734/JGM.2013.10.1.57.

Acromegaloid Facial Appearance Syndrome: A New Case in India

• Rai A
• Sattur AP
• Naikmasur

• KMID: 2055581
• DOI: http://doi.org/10.5734/JGM.2013.10.1.57

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.

Keyword

Acromegaloid Facial Appearance Syndrome; Hughe's syndrome; polydactyly

MeSH Terms

Acromegaly
Eyebrows
Facies
Humans
Hypertrichosis
India
Limb Deformities, Congenital
Lip
Male
Mouth Mucosa
Nails
Nose
Polydactyly
Tongue, Fissured
Tooth
Acromegaly
Hypertrichosis
Limb Deformities, Congenital