Research over the last decade has provided compelling evidence that the ability to engage with music is a fundamental human trait, yet the biological basis of music remains largely unknown. Recent findings indicate that a small number of individuals have severe musical problems that have neurogenetic underpinnings. Such deficiencies are termed congenital amusia, an umbrella term for lifelong mu...

RATIONALE Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities. PATIENT CONCERNS Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented...

About 120 million people worldwide suffer from congenital (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing loss. In addition, a large number of elderly people worldwide suffer from age-related (late-onset) hearing loss. c-Ret and c-RET have been shown to be essential for the development and maintenance of neurons inc...

Waardenburg syndrome is an inherited autosomal dominant disorder consists group of rare genetic conditions. Mutation in the PAX3, MITF, SOX10 and SNAI2 genes are known as main cause for it. There four types differing phenotypic characteristics described. This characterized by congenital deafness or some degree hearing loss, different color eyes with various depigmentation skin hair, increased i...

To screen for congenital deafness, brainstem auditory-evoked potential (BAEP) testing was performed on 1031 Dalmatians from three geographically separated areas. Phenotypic marker assessment was done to determine markers possibly associated with deafness. Markers included sex, hair coat color, pigmentation of different areas of skin (eye rims, nose, and ears), presence of a patch, spot size and...

OBJECTIVES To monitor the implementation of a programme of health surveillance for preschool children and measure its effect on child health. DESIGN Regular reporting to primary care teams of their own performance, and determining the overall effect of the programme on children in the district. SETTING All practices in Northumberland health district. SUBJECTS All children of preschool age...

Rubella is a viral disease caused by rubella virus which affects children, young adults and women of child bearing age. It is mainly transmitted through the respiratory route. It is a major public health concern due to its potential in causing poor pregnancy outcome ranging from spontaneous abortion, stillbirth to congenital rubella syndrome (CRS). CRS is principally characterized by congenital...

To cite: Reddy AK, Renganathan SN, Jayamohan AE, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014204204 DESCRIPTION Introduction Congenital rubella syndrome (CRS) is a spectrum of clinical findings in a patient that results from primary maternal infection with rubella virus. Diagnosis is usually made clinically but imaging findings can prompt the diagno...

Congenital syphilis is an infectious disease caused by Treponema pallidum transmitted by infected mother to her baby during pregnancy. Late congenital syphilis is recognised with 2 or more years after birth. One of the main aspects is observed with the triad of Hutchinson, characterised by the presence of interstitial keratitis, eighth nerve deafness and Hutchinson's teeth. This manuscript repo...