We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in ...

Authors report the case of eleven years old boy named CAN who complained moderate atypical abdominal pain without irradiation, without increasing or decreasing factors, accompanied by palpitations lasting during two days with abrupt beginning following a dispute. He had also hypersudation and dyspnea at rest. The past medical history revealed that he was correctly vaccinated, with a good psycho...

A 4 year old boy presented with history of itchy raised lesions on body of 2 years duration. Though parental consanguinity was not present, his elder brother had similar complaints. Dermatological examination revealed multiple hyperpigmented papules with a central keratotic plug distributed mainly over face and extensors of upper and lower extremities. Koebnerisation was present. Skin biopsy re...

We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parenta...

Henri de Toulouse-Lautrec (1864-1901) was initially thought to have had osteogenesis imperfecta. However, following the description of pycnodysostosis as a new genetic skeletal dysplasia, Maroteaux and Lamy concluded that this was Toulouse-Lautrec’s affliction (Figure1). He, in fact, presented all the clinical features suggestive of this diagnosis, in addition to parental consanguinity. Toulous...

To identify the prevalence of disability and characteristics, conditions and needs of those with disabilities in rural communities in the north of the West Bank, 10 147 families were screened in a cross-sectional survey. Prevalence was 1.7% (806 persons with disabilities). Physical (34.0%), mental (15.9%) and speech (11.4%) disabilities were the commonest. The major cause as perceived by the fa...

Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in po...