Consanguineous marriages constitute a significant fraction of marriages worldwide and confer a major public health concern on newborns. In addition to the risk of acquiring a recessive genetic disease, the offspring of consanguineous parents are plausibly at an increased risk of preterm birth, decreased anthropometric measurements, congenital defects and mortality. How consanguinity confers suc...

Background: Comorbidity of attention-deficit/hyperactivity disorder (ADHD) is one the most actively studied topics in field child and adolescent psychiatry. Among clinic-referred children, comorbidity frequently found between ADHD conduct (CD). However, little known regarding probable association co-occurrence external factors. One factor that has recently sparked interest family dynamics.&#x0D...

Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow...

Genomic DNA from 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights -4.9 +/- 1.4 SDS) was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one) of the GH gene. The two pati...

Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and o...

Background: Epilepsy is a chronic neurological condition and the world’s common serious brain disorder. The aim of this case-control study is to identify the significance of certain risk factors for epilepsy. The risk factors examined are age, head trauma, central nervous system infections e.g. meningitis, abnormal perinatal history, family history, socioeconomic status and parental consanguini...

BACKGROUND Common variable immunodeficiency (CVID) is the most common form of symptomatic primary immunodeficiency disease. It is characterized by hypogammaglobulinemia, increased predisposition to infections, autoimmunity, and cancer. OBJECTIVES This study was performed to evaluate the clinical and immunological features of a group of pediatric patients with CVID. METHODS The study populat...

BACKGROUND PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. METHODS A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicin...

pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. we report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. the case brings in forth the importance of investigating any infant presenting with features of c...