Kozlowski syndrome is the most common type of spondylometaphyseal dysplasia (SMD). It is characterized by short stature (130 to 150 cm), pectus carinatum, limited elbow and hip movement, mild bowleg deformity, and curvature of the spinal column. Children with Kozlowski dwarfism usually are not recognized at birth, since they have normal clinical features, weight, and size. This article reports ...

We have reviewed 16 patients treated by leg lengthening for various forms of Turner dwarfism with regard to the long period of healing and the complications. We consider that Turner dwarfism is a suitable indication for leg lengthening because of the moderate length deficit and the morphological appearance of the patients, and have introduced an improved programme of management to deal with the...

The differential diagnosis of growth retardation has become of great importance in the past few years, since human growth hormone (HGH) treatment has become available to patients with pituitary dwarfism. The diagnosis of low birthweight dwarfism (Black, 1961) is usually easy, but before puberty the differentiation ofconstitutionally retarded growth (Wilkins, 1957) from pituitary dwarfism may be...

Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as the chondrodysplasias. One such disorder, multiple epiphyseal dysplasia (MED), is characterized by mild dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the disease m...

Social networking sites have gained widespread popularity and remain a popular way of keeping in contact with others. Drawing on networked individualism, this paper argues that Facebook is beneficial for recruiting disabled participants spread over wide geographical area. The aim the article to provide comparison between using as recruitment tool more traditional form face-to-face via attending...

Two sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration are reported. The onset of the disease in both patients occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparen...

The results of 6 months to 8 years of treatment of pituitary dwarfism in 1,959 patients in Japan were summarized. The data were based on the reports of the physicians treating the patients. Among the patients, 1,720 cases suffered from idiopathic pituitary dwarfism, 227 cases from secondary pituitary dwarfism, and 12 cases from unknown causes. Their initial age ranged from 9 months to 36 years ...

The authors present the first reported use of the lateral retroperitoneal transpsoas approach for interbody arthrodesis in a patient with achondroplastic dwarfism. The inherent anatomical abnormalities of the spine present in achondroplastic dwarfism predispose these patients to an increased incidence of spinal deformity as well as neurogenic claudication and potential radicular symptoms. The r...

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.