Acrodysostosis in a kuwaiti boy: a brief clinical report

This report describes a Kuwaiti boy with Acrodysostosis. This disorder is characterized by short nose, open mouth, prognathism and short hands/feet. Mental deficiency is frequent and cone epiphyses occur in this condition. Clinical examination, skeletal survey, echocardiography, ultra-sonography and chromosomal analysis were carried out. On examination he had short stature mainly acromelic and the hands did not show the trident sign of dyschondroplasia. He had also a characteristic facies with broad/flat nasal bridge, short nose with upturned nostrils, congenital heart [VSD] and mental retardation. Radiographic examination showed acromelia, cone-shaped epiphyses of bones of hands/feet and scoliosis of thoracolumber region of the spine. CT-scan brain showed mild ventriculomegaly and brain atrophy. Our patient could be a typical case of acrodysostosis with auto-somal dominant mode of inheritance

Citrullinemia: report of three bedouin sibs and review

A Bedouin family from Kuwait, with a 'mosaic' inbred population, is reported. The family includes 3 citrullinemic sibs and a discordant identical twin pair. Both interfamilial and intrafamilial phenotype variabilities are briefly discussed. The clinical manifestation of the disease in this family is described and the molecular and enzymatic bases of citrullinemia are briefly discussed