background it seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in iran. objectives the aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among iranian samples who are candidates for cochlear implantation. methods this study was retrospe...

      Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...

OBJECTIVE To study the association of consanguinity as a risk factor for congenital heart diseases (CHDs). METHODS Patients with suggestive signs of CHD admitted to the Al-Ramadi Maternity and Children Hospital, Al-Anbar Governorate, Iraq from January 2009 to January 2010 were subject to diagnostic investigations. Case data includes: name, age, gender, and cause of admission. Parents data inc...

When Charles Darwin’s daughter Anne Elizabeth (‘Annie’, Photograph 1) died at the age of 10 years on April 23, 1851 her parents were devastated. Charles Darwin was a devoted father and constantly concerned about the health of his 10 children. His concerns were also motivated by fear of the consequences of marriage between relatives: Emma Wedgewood, his wife, was also his first cousin. The possi...

background: androgen insensitivity syndrome (ais) or testicular feminization is a partial or complete inability of cell response to androgen. the cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. there are three categories of ais, complete, partial and mild, depending on the degree of external genital masculinizat...

leukocyte adhesion deficiency type 1 (lad 1) is an autosomal recessive hereditary disorder resulting from deficiency of cd18, characterized by recurrent bacterial infections. we report two consanguineous patients with leukocyte adhesion deficiency type 1( lad1). these two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the a...