Achondroplasia: a case report

MEHMET EMRE ATABEK , KÜRŞAD AYDIN, BÜLENT ORAN, İbrahim Erkul

  • MEHMET EMRE ATABEK: NECMETTİN ERBAKAN ÜNİVERSİTESİ
  • KÜRŞAD AYDIN: GAZİ ÜNİVERSİTESİ
  • BÜLENT ORAN: SELÇUK ÜNİVERSİTESİ
  • İbrahim Erkul: Selçuk Üniversitesi Meram Tıp Fakültesi
  • Year : 1999
  • Vol : 15
  • Issue : 3
  •  Page : 167-169
Achondroplasia, a congenital skeletal disorder, is inherited in an autosomal dominant fashion, but approximately 75 % of cases have new dominant mutations. The characteristic clinical findings are short extremities with majör shortening proximally, depressed nasal bridge, large head, bulging forehead, and prominent mandible. Recurrent upper airway infections and otitis media are common. İn this paper, a case report, who has autosomal dominant inheritence and recurrent otitis media is presented because of rare appearance.

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Conflict of interest : Yok
This article is published under the CC BY-NC 4.0 license.
Selcuk Medical Journal
1999, Vol. 15 (3)
ISSN: 1017-6616
E-ISSN: 2149-8059
Received : , Accepted : , Published Online :