Two out of 3 children of a first-cousin marriage presented with severe rickets in infancy and are now adult. Their disease has shown continued activity, marked resistance to treatment with vitamin D, early fusion of cranial sutures, greatly increased bone density, nerve deafness, and life-long hypophosphataemia unaffected by treatment. Both parents and a third sib were normal clinically and bio...

Children of consanguineous unions carry long runs homozygosity (ROH) in their genomes, due to parents' recent shared ancestry. This increases the burden recessive disease populations with high levels consanguinity and has been heavily studied some groups. However, there little investigation broader effect on patterns genetic variation a global scale. study, which collected published data inform...

A 2-month old girl was transferred from General Hos­ pital Kurunegala to the Lady Ridgeway Hospital (LRH) in September 1998 with a history of uncontrolled generalised fits from the age of 6 weeks. Before 6 weeks the baby-had been apparently normal. She is a product of a first cousin marriage. The other two children are in good health. The birth and neonatal histories were normal. The birth weig...

BACKGROUND Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. METHODS In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

We describe a novel form of juvenile recessive ALS (JRALS) affecting four of six offspring from a consanguineous first cousin marriage. The syndrome is characterized by early and prominent upper motor neuron signs, along with striking amyotrophy of the upper and lower limbs and bulbar involvement. After excluding linkage to loci with known association to ALS and other motor neuron diseases, we ...

BACKGROUND Bloom's syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. Its frequency in the general population is unknown but it is common in eastern European Ashkenazi Jews. CASE REPORT A 12-year-old girl was referred to us because of short stature. She was the second child of ...

A 19-year-old male was admitted to our department with a 3-year history of gait disturbances. He was one of 4 children from a nonconsanguineous marriage. He stated that his cousin had been followed up with the same diagnosis by our clinic (Figure 1). Physical examination revealed pes planus and left-curved scoliosis (Figures 2,3). Neurological examination showed titubation in the head, and nyst...