Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Acromegaloid Facial Appearance Syndrome - A New Case in India

  • Rai, Arpita (Department of Oral Medicine and Radiology, Faculty of Dentistry) ;
  • Sattur, Atul P. (Department of Oral Medicine and Radiology, S.D.M. College of Dental Sciences & Hospital) ;
  • Naikmasur, Venkatesh G. (Department of Oral Medicine and Radiology, S.D.M. College of Dental Sciences & Hospital)
  • Received : 2013.05.18
  • Accepted : 2013.06.12
  • Published : 2013.06.30
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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.

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References

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