Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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impaired (132 cm in males and 125 cm in females). The other abnormalities include

disproportionately enlarged head, characteristic facies, trident hand, brachydactyly,

genu varum, exaggerated lumbar lordosis, and limitation of elbow extension and

rotation. Serum IGF1 and GH dynamics are normal, and bone age corresponds to

chronological age in these individuals. Achondroplasia is due to activating muta-

tions of FGF receptor type 3 (FGFR3). It is considered as a GH-resistant state and

high doses of rhGH have been used with limited benefits (Fig. 1.15).

a

d

b

c

Fig. 1.15 (a) A child with short stature due to spondylo-epi-metaphyseal dysplasia, (b–d) plain
radiographs of the wrist with proximal hands, knee, and spine show extensive epi- and metaphy-
seal dysplasia, juxta-articular osteopenia, and anterior beaking involving the vertebral bodies

1 Disorders of Growth and Development: Clinical Perspectives