Indian Journal of Public Health Research & Development

Open Access Open Access  Restricted Access Subscription Access
Open Access Open Access Open Access  Restricted Access Restricted Access Subscription Access

Aarskog Syndrome - a Rare Case Report


Affiliations
1 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, India
2 Department of Pediatries, Chigateri General Hospital, Davangere, Karnataka, India
     

   Subscribe/Renew Journal


Aarskog syndrome is a rare X-linked inherited disorder characterized by short stature, multiple facial, dental, digital and urogenital abnormalities. Here is one such male patient aged 20 years who was short statured and had dysmorphic facies with lack of eruption of multiple permanent teeth. He also had shawl scrotum with low IQ. The clinical appearance was coinciding with most of the features suggested in Aarskog syndrome.
Subscription Login to verify subscription
User
Notifications
Font Size


  • M. Taub, A. Stanton. Aarskog syndrome: A case report and literature review Optometry - Journal of the American Optometric Association 2008; 79(7): 371-377.

  • Michael L. DiLuna, Nduka M. Amankulor, Michele H. Johnson and Murat Gunel. Cerebrovascular disease associated with aarskogscott syndrome. Paediatric Neuroradiology 2007; 49(5): 457-461.

  • Aryan Jogiya ; Charles Sandy. Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome. Ophthalmic Genetics 2005; 26 (3): 139-141.

  • Andrassy RJ, Murthy S, Woolley MM. Aarskog syndrome: significance for the surgeon. J Pediatr Surg 1979; 14(4): 462-464.

  • Aarskog D. "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J Pediatr 1970; 77 (5): 856-861

  • Scott CI. "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig 1971; 6: 240-246.

  • Isabel Fernandez, Masato Tsukahara, Hiroshi Mito, Hideki Yoshii, Masashi Uchida, Kiyosato Matsuo et al. Congenital heart defects in aarskog syndrome. American Journal of Medical Genetics 1994; 50(4): 318-322.

  • Kenneth Lyons Jones. Smith's recognizable patterns of human malformations. 5thedn. W B Saunders and company.1997; 128-129.

  • Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean-Pierre Fryns, Ellen Crushell et al. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. European Journal of Human Genetics 2004; 12: 16-23.

  • Bruno Bissonnette, Igor Luginbuehl, Bruno Marciniak, Bernard Dalens. Syndromes: rapid recognition and perioperative management. 1st edn. Library of congress cataloging-in- Publication data. 2006.1

  • M. J. Van De Vooren, M. F. Niermeijer A. J. M. Hoogeboom. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clinical Genetics 1983; 24(6): 439-445.

  • Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet 1993; 46(5): 501-509.

  • W. Sepulveda, V. Dezerega, E. Horvath and M. Aracena. Prenatal sonographic diagnosis of Aarskog syndrome. Journal of Ultrasound in Medicine 1991; 18(10): 707-710.

  • Jerome L, Gorski , Lourdes Estrada, Changzhi Hu, Zhou Liu. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). Developmental Dynamics 2000; 218(4): 573 - 586.

  • Batra P, Kharbanda OP, Duggal R, Reddy P, Parkash H. Orthodontic treatment of a case of Aarskog syndrome. J Clin Pediatr Dent 2003; 27(3): 229-233.

  • Stevenson RE et al: Aarskog-Scott syndrome: Confirmation of linkage to the pericentric region of the X chromosome. Am J Med Genet 1994; 52: 339-345.

  • Glover TW et al: translocation breakpoint in aarskog syndrome maps to Xp11.21 between alas2 and DXS323. Hum Mol Genet 1993; 10: 1717-1718.

  • Pasteris NG et al: Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell. 1994; 79: 669-678.

  • CE Schwartz, G Gillessen-Kaesbach, M May1, M Cappa, J Gorski, K Steindl et al. Two novel mutations confirm FGD1 is responsible for the aarskog syndrome. European Journal of Human Genetics 2000; 8: 869-874.

  • Agnar Halse, Kjell Bjorvatn, Dagfinn Aarskog. Dental findings in patients with aarskog syndrome. European Journal of Oral Sciences 2007; 87(4): 253-259.

  • Fryns JP: Aarskog syndrome: the changing phenotype with age. Am J Med Genet 1992; 43: 420- 427.

  • Porteous MEM et al: The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13). Genomics 1992; 14: 298-301.


Abstract Views: 219

PDF Views: 0




  • Aarskog Syndrome - a Rare Case Report

Abstract Views: 219  |  PDF Views: 0

Authors

M. S. Suma
Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, India
G. V. Pramod
Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, India
G. P. Sujatha
Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, India
L. Ashok
Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, India
M. L. Kulkarni
Department of Pediatries, Chigateri General Hospital, Davangere, Karnataka, India

Abstract


Aarskog syndrome is a rare X-linked inherited disorder characterized by short stature, multiple facial, dental, digital and urogenital abnormalities. Here is one such male patient aged 20 years who was short statured and had dysmorphic facies with lack of eruption of multiple permanent teeth. He also had shawl scrotum with low IQ. The clinical appearance was coinciding with most of the features suggested in Aarskog syndrome.

References