[Short stature].
Careful clinical assessment and a limited number of laboratory investigations usually allow distinguishing pathologic short stature from a great number of children presenting with constitutional or familial short stature. Chronic digestive and renal problems have to be ruled out. Growth hormone deficiency may be difficult to diagnose. Turner syndrome has to be ruled out in any girl with so far unexplained short stature. More difficult is the clinical diagnostic orientation to rare genetic disorders, such as skeletal dysplasias, genetic syndromes and inborn errors of metabolism. Medical history, clinical assessment and oriented investigations allow to isolate difficult cases and to refer them to specialists for specific therapy and/or genetic counselling.
Division de pédiatrie moléculaire, Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne.
L
L
Bonafé
G
G
Theintz
D000293:Adolescent; D000328:Adult; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male