Congenital short femur
Overview
A birth defect where the thigh bone is abnormally short.
Symptoms
* Short leg * Limp * Unusual walk
Causes
* Familial short stature * Constitutional delay of growth and puberty * Hypothyroidism * Growth hormone deficiency (GHD) * GH resistance (Laron syndrome) * Congenital hypopituitarism –Secondary to brain tumors o Acquired hypopituitarism –After irradiation, surgery, and chemotherapy for neoplasms –Infectious –Infiltrative –Vascular * Cushing syndrome * Precocious puberty –Tall initially –Final height compromised * Pseudohypoparathyroidism * Rickets * Genetic syndromes –Turner syndrome –Down syndrome –Noonan syndrome –Prader-Willi syndrome * Intrauterine growth retardation –Silver-Russell syndrome * Disorders of bone development –Achondroplasia/hypochondroplasia –Chondrodystrophies * Psychosocial deprivation * Malnutrition * Chronic drug intake –Glucocorticoids –Methylphenidate * Infectious –HIV –Tuberculosis * Congenital heart disease * Gastrointestinal –Celiac disease –Inflammatory bowel disease –Chronic liver disease * Pulmonary –Cystic fibrosis * Chronic renal disease –RTA –Renal failure * Skeletal disorders
Treatment
* Treat the underlying condition * Growth hormone therapy –Indicated in GHD and some other forms of short stature (renal failure, Turner syndrome, Prader-Willi syndrome, small-for-gestational age without catch-up growth) –Earlier initiation to optimize final height outcome –Nightly subcutaneous administration of GH at 25–50 µ g/kg/day * Monitor for loss of other pituitary hormones and replace all deficiencies * Monitoring growth hormone therapy –Close follow-up with pediatric endocrinologist every 3–6 months –Monitor side effects of GH treatment –Monitor serum IGF-I and IGFBP-3 levels –Dose adjustments based on IGF values and growth response