[Peripheral dysostosis, hypoplasia of the nose, low stature. Description of a case].
The authors describe the case of a five-year old girl presenting short stature. The evidence of small hypoplasic nose, of abnormally small hands and feet with typical radiological alterations and psychomotor retardation, leads to the diagnosis of acrodysostosis. Moreover, the endocrinological investigations disclosed a dysequilibrium in the pituitary-thyroid axis, which, to our knowledge, has never been described to date in the syndrome of acrodysostosis.
D001827:Body Height; D002675:Child, Preschool; D004413:Dysostoses / Q000175:diagnosis*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D009666:Nose / Q000002:abnormalities*; D010900:Pituitary Diseases / Q000175:diagnosis; D013577:Syndrome; D013959:Thyroid Diseases / Q000175:diagnosis
Disostosi periferica, ipoplasia del naso, bassa statura. Descrizione di un caso.