Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell ...

We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the imp...

UNLABELLED Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. CONCLUSION This review summarizes currently available information on monitoring for short st...

The classic TS phenotype includes short stature, gonadal dysgenesis with primary amenorrhea and hypergonadotropic hypogonadism, facial and body dysmorphisms, skeletal abnormalities, cardiovascular and renal malformations, and predisposition to autoimmune diseases, such as thyroid diseases, diabetes mellitus, celiac disease, and vitiligo.21 Short stature is always present and is caused by severa...

BACKGROUND Growth is one of the fundamental processes of adolescent development. Careful history and examination, and relevant tar-geted investigations, can streamline the referral process, highlighting the important role of primary healthcare clinicians. OBJECTIVE This article will provide a guide for clinicians to categorise growth patterns in adolescents, and recognise patients who may hav...

The use of (costly) growth hormone (GH) treatment in short children is often justified by the assumption that short stature considerably reduces quality of life in adults. We tested this assumption in 5 groups of short adults: 25 patients with isolated GH deficiency; 17 male patients with childhood onset renal failure; 25 women with Turner syndrome and 26 patients who were presented as a child ...

1. Children with proven growth hormone deficiency (GHD) 2. Children with height less than 3rd percentile for chronologic age with chronic renal insufficiency 3. Patients with AIDS wasting 4. Adults with proven GHD 5. Patients with Turner’s syndrome 6. Children with growth failure due to Prader-Willi syndrome 7. Patients with short stature due to Noonan syndrome 8. Promotion of wound healing in ...

AIMS To assess the usefulness of the metacarpal index (MCI) as a radiographic measure of the proportions of the metacarpals in the differential diagnosis of short stature. To investigate the significance of the MCI in following the longitudinal growth and proportions of individual long bones during growth hormone stimulated catch up growth in children with short stature with and without growth ...