Rare Diseases Symptoms Automatic Extraction

Bilateral ossiculoplasty in 1 case of achondroplasia.

[achondroplasia]

Achondroplasia is the most common skeletal dysplasia and it combines various complications with normal longevity. Hearing disturbance due to otitis media or an ossicular anomaly is one of the most common complications. Conductive hearing loss is suggested as the most common form of hearing loss. Temporal bone and middle ear structures are distorted in achondroplasia because of rotational change of the skull base. Authors experienced a case of an achondroplastic patient with bilateral hearing disturbance. We faced making a potential mistake during the previous operation but a favorable postoperative result occurred. Our experience could be helpful to other clinicians who face achondroplastic patients.

Diseases presenting "common form" symptom

  • achondroplasia
  • alexander disease
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • child syndrome
  • classical phenylketonuria
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • oral submucous fibrosis
  • pendred syndrome
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • thoracic outlet syndrome

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