Medicine for life

 Definition of Congenital anomalies:  Abnormalities of body structure that originate before birth. Etiology: Genetic: chromosome abnormality : 6% in incidence & autosomal abnormalities and more severe than sex-chromosome. prenatal or postnatal retardation of linear growth, brain growth, mental retardation, and multiple anomalies of early embryogenesis. Single gene defect:  7.5%  Isolated: in one organ or system e.g hydrocephalus, microphthalmia, polydactyly. Multiple: multiple organs or systems don't have an embryological relationship.                e.g. Meckel syndrome: Autosomal recessive (encephalophy& polydactyly and polycystic                        kidney.        3. multifactorial:              majority of cases.             polygenic inheritance of 2 or more genes inclu...

 We Will review some of the most common congenital anomalies examples in brevity: *Cleft lip /palate: most common head and neck anomalies. leads to recurrent chest and ear infections. must engorgement breastfeeding (may need breastfeeding consultant to prevent aspiration) surgical closure before phonation to prevent hypernasality. * Choanal atresia: Congenital blockage of the posterior nares due to the persistence of the bony septum in 90% of cases or soft tissue septum in 10% of cases. Inability to pass catheter in the resuscitation room. Respiratory distress due to upper airway obstruction. Must use oral airway if bilateral closure detected until a surgical correction occurs. *Tracheal-esophageal fistula (TOF): It May happen isolated or with VATER syndrome. Esophageal atresia with distal TOF occurs in 85% Suspected in polyhydramnios. A lot of secretions with cough and choking with feeding. Failure to pass the nasogastric tube beyond the proximal esophagus. Do an X-ray to diagnose...