Background: Intrauterine fetal death (IUFD) is a cataclysmic event for the parents. It an important indicator of maternal and perinatal health given population. This study was undertaken to factors associated with IUFD. Methods: retrospective carried out in Bangladesh Institute Research Rehabilitation Diabetes, Endocrine Metabolic Disorders (BIRDEM) General Hospital, Dhaka, from November 2019 O...

Congenital aniridia manifests with total or partial absence of the iris. The association disease PAX6 gene has been proven. Changes in structure lead to intrauterine pathology, visual organ malformation, malformation master regulator proteins organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into development PAX6-associated syn...

(Abstracted from J Pediatr 2022;244:148–153) Congenital heart defects are the most common cause of infant death linked to congenital malformations (CHDs). This group disorders therefore remains a for concern, despite improvements in medical and surgical management that have resulted higher survival rates.

The Smith-Lemli-Opitz syndrome (SLOS) is a congenital, genetically conditioned, metabolic disorder with autosomal recessive inheritance. The syndrome is caused by high levels of cholesterol precursors, i.e. 7-dyhdrocholesterol (DHCR7) and 8-dehydrocholesterol (DHCR8), which results in cholesterol synthesis disorders. Cholesterol deficiency leads to a series of developmental disorders in the foe...

Congenital disorders of glycosylation (CDG) form a group of autosomal recessive metabolic disorders arising from defects occurring during the biosynthesis of protein glycans. There have been extensive studies into N-linked glycan disorders in which transferrins are glycosylated to different degrees. There have been far fewer studies on the O-linked disorders which predominantly involve errors i...

Congenital disorders of glycosylation (CDG) form a group of autosomal recessive metabolic disorders arising from defects occurring during the biosynthesis of protein glycans. There have been extensive studies into N-linked glycan disorders in which transferrins are glycosylated to different degrees. There have been far fewer studies on the O-linked disorders which predominantly involve errors i...

Mutations in genes encoding ion channels, transporters, exchangers, and pumps in human tissues have been increasingly reported to cause hypokalemia. Assessment of history and blood pressure as well as the K(+) excretion rate and blood acid-base status can help differentiate between acquired and inherited causes of hypokalemia. Familial periodic paralysis, Andersen's syndrome, congenital chlorid...

chronic liver diseases in children is the result of many different diseases including: metabolic, genetic, infectious, toxic and idiopathic causes. this was a case series study on 133 infants and children with age range 6 month to 12 years old, who presented clinically with manifestation of chronic liver disease and were admitted to children hospital medical center from year 1999 to 2000. in th...