A clinical observation of achondroplasia.
Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed. There were 17 males and 8 females. Twelve cases (48%) visited us before one-year-old. Familial vertical transmissions were noted in only three patients (12%) and others were new mutations. Patients usually had typical rhizomelic short stature, large head, frontal bossing and trident fingers. Their heights were around four standard deviations below the 50th percentile of the normal growth curve. The head girths of several patients were above the 97th percentile of the normal growth curve, but were normal in a special growth chart for achondroplasia. No mental problem was noted in our patients. Three of the seven patients older than five years had severe leg bowing and kyphosis, and the oldest one (17-years-old) had nerve compression symptoms. Genetic counselling and the management of complications in achondroplasia are important.
Hwu
W L
WL
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Wang
T R
TR
D000130:Achondroplasia / Q000503:physiopathology*; D000293:Adolescent; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006128:Growth; D006801:Humans; D007223:Infant; D008297:Male