Chromosomal aberration leading to congenital malformations is an important cause for infant mortality. Forty five infants with congenital malformations affecting various systems were screened by photokaryotyping for evidence of cytogenetic abnormalities after taking thorough family and obstetric history. Among the cases multiple malformations suggestive of Down’s Syndrome was the commonest. The...

Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. No similar disorders or parental consanguinity were found in her family. Typical features of PC developed si...

s-j syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. case report: first case: n.1. a boy aged 7 years. his main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. myotonic ...

BACKGROUND Research on the attitudes of Saudi adults towards consanguinity is scarce. The study aimed to explore the attitudes towards consanguinity and its associations with socio-demographic characteristics in a sample of Saudi adults. METHODS A cross-sectional study was conducted using a self-administered questionnaire. A total of 386 outpatient waiting-area attendees at King Abdul-Aziz Me...

Introduction: Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries poor oral hygiene. The aim this study was to investigate general clinical findings patients EB. Materials Methods: In prospective study, family history 26 cases EB were evaluated. type EB, gender, age, parental consanguinity,...

results out of 617 patients, 79.6% had 21-hydroxylase deficiency (21-ohd). in 21-ohd group 94.5% had classical type and 5.5% were non-classic. among the classic type 78% had salt-wasting form (sw) and 22% simple virilizing (sv). both 21-ohd-sv and sw were diagnosed more frequently in females. frequency of other types were as follow: 11-hydroxylase deficiency (11-ohd), 13.3%; 3ß-hydroxysteroid d...

The cross-sectional study was based on the Primary Health Care Centers among Arab patients aged 18–55 years from January 2009 to December 2010. Of the sample size of 1,491 subjects, 1,184 patients agreed to participate in this study (79.4%). Institutional review board approval was obtained from the Hamad Medical Corporation for conducting this research. The subjects who did not agree to partici...

background : type 1 diabetes mellitus is the most common endocrine disease in pediatric. we aimed to determine the demographic characteristics at presentation of childhood type 1 diabetes mellitus in hamadan, west province of iran. methods : in this cross sectional descriptive study, demographic data of children with type 1 diabetes mellitus being followed up in pediatric endocrinology clinic o...