The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...

Procedures in the field of head and neck surgery can be complicated by haemorrhage post-operative bleeding. Whilst it is commonplace to screen for coagulopathies pre-operative period, rare congenital bleeding disorders difficult detect have significant consequences. We report a case following routine sinus due an undiagnosed haemophilia A 65-year-old male.

Objective: to identify types of birth defects in HIV vertically exposed children and to determine the rate of congenital disorders counted in children born to HIV infected mothers. We analyzed the data recorded for HIV perinatally exposed children followed up in the National Institute for Infectious Diseases “Prof. Dr. Matei Balş”, Bucharest, the Pediatric Department from January 1 2006 to Dece...

Congenital deformities of the upper extremity are rare. They are often associated with other, more severe disorders of the cardiovascular, craniofacial, neurologic, and musculoskeletal systems. Most upper-extremity congenital anomalies are minor and cause no functional deficits, and surgical reconstruction is therefore unnecessary. If a severe cosmetic deformity is present or there is significa...

The World Health Organization defines congenital disorders as "structural or functional abnormalities which are present from birth, whether recognized at birth or later" (1). Data on the rate of congenital disorders in Iran is sparse. Insufficient birth defects registration or surveillance system of fetuses and infants lead to scarce comprehensive data about the prevalence of congenital disorde...

Background: Few cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have been reported, so far. The main concern in the management of PHHI is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. Total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. Case report: In this report...

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

BACKGROUND There are only few reports on the prevalence of common cardiovascular disorders among adolescents. The previous studies focused on specific diseases, and screened relatively small samples. OBJECTIVE The aim of this study was to define the prevalence of different common cardiovascular disorders among 17-year-old Israeli conscripts. A comparison between the morbidity patterns of fema...

background: few cases of persistent hyperinsulinemic hypoglycemia of infancy (phhi) have been reported, so far. the main concern in the management of phhi is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. case report: in this report,...