Clinical evaluation starts with a detailed medical and family history and a thorough physical examination (Table 16.3). A keypoint is a detailed description of the child’s growth pattern, including the time when the growth deficit was first observed. Birth characteristics must be evaluated (gestation and delivery conditions or complications; gestational age, birth weight, length and head circumference). This information is important to distinguish short children in two groups by the onset of the growth impairment: short stature with prenatal or postnatal onset. Medical history must be investigated, with a focus in neuropsychomotor development, nutritional status, medication use, and cardiac, renal, pulmonary and gastrointestinal diseases. Evaluation of a child’s height must take into account the familial patterns of growth and puberty [1].

Physical examination should be complete, including the description of anthropometric measurements, facial and body dysmorphic features, and any other clues for one of the many causes of short stature. In children younger than 2 years of age, supine length, weight, weight-for-length, and head circumference will be measured, and fontanelles as well as dentition should be evaluated. In older children, erect height, weight, body mass index (BMI), head circumference, arm span, and sitting height (SH) should be measured [1]. In the latter, the pubertal staging has to be evaluated, as determined by Marshall and Tanner criteria [6, 7]. Evaluation of a child’s height must be done in the context of normal standards for sex and age with the international data at hand. Such standards can be either cross-sectional (by calculation of height SDS) or longitudinal (by plotting in growth charts). Serial measurements with a minimum interval of 6 months are necessary to determine the height velocity. Because genetic factors are important determinants of growth and height, all children should be assessed considering siblings and parents. For that purpose, the parental target height is calculated and expressed as mentioned above. When a child’s growth pattern clearly deviates from that of parents and siblings, the possibility of an underlying pathology should be considered [3].

Many abnormal growth states are characterized by disproportionate growth, which is strongly suggestive of skeletal dysplasia. Therefore, body proportion measurements should be part of the evaluation of short stature. We recommend the use of sitting height: height ratio (SH:H) for age and sex, which can also be expressed in SDS, according to published standards. This ratio allows for the observation of body proportion changes throughout development. Children with short stature and an increased SH:H ratio for age and sex have a disproportional short stature caused by limb abnormalities, while children with short stature and a decreased SH:H ratio for age and sex have a disproportional short stature caused by axial segment abnormalities [1, 8] (Fig. 16.1).