introduction: hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. sensory-neural hearing loss (snhl) accounts for more than 90% of all hearing loss. this disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. given that congenital heart diseases are life-thre...

cornelia de lange syndrome (cdls) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. in classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. in t...

THE ESOPHAGUS Anatomy Congenital Disorders Tracheoesophageal Fistula Rings and Webs Esophageal Diverticula Motor Disorders Achalasia Scleroderma Hiatal Hernia Esophagitis Reflux Esophagitis Barrett Esophagus Eosinophilic Esophagitis Infective Esophagitis Chemical Esophagitis Esophagitis of Systemic Illness Iatrogenic Cancer of Esophagitis Esophageal Varices Lacerations and Perforations Neoplasm...

The porphyrias are uncommon, compSex, and fascinating metabolic conditions, caused by deficiencies in the activities ofthe enzymes ofthe heme biosynthetic pathway. ISvo cardinal symptoms of the porphyrias are cutaneous photosensitivity and neurologic disturbances. Molecular analysis of gene defects has shown that there are multiple and heterogeneous mutations in each porphyria. Patients with sy...

because of the high rate of consanguineous marriages, metabolic disorders, both micromolecular and macromolecular types, are very prevalent in our population. they constitute a very important health problem in this community. they are mostly an enzymopathy or genetic disease. most of them are the result of a homozygous or compound heterozygous mutation in many different genes which are responsi...