Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pai...

HNPCC (Hereditary non-polyposis colorectal cancers) development is caused by mutation of genes included in system of mismatch repair genes. The mutation exists at 60% of patients in hMSH2 gene, 30% in hMLH1 and 10% both in hPMS1and hPMS2 genes. RER+ exists in about 90% in hereditary non-polyposis colorectal cancer and about 15-28% in sporadic cancers. The purpose of the study was to determine h...

introduction: maxillary osteomyelitis is a rare phenomenon. if it occurs, evaluation for underlying disease especially osteopetrosis must be considered. osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. case report: this is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis.  in this case, the disease represented mainly with fac...

background: hereditary angioedema (hae) is a rare autosomal dominant primary immunodeficiency with complement system defect characterized by recurrent episodes of angioedema involving the skin or mucosa of the upper respiratory and gastrointestinal tracts. objective: to characterize the clinical and laboratory data of hereditary angioedema in iran. methods: patients with probable diagnosis of a...

BACKGROUND Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering tha...

hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. we report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. neurological examination showed that he had proximal lower limbs weakness with a positive gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle wa...

1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ova...

Introduction THE hereditary and familial aspects of exophthalmic goitre, although not entirely disregarded, have not apparently been closely studied in the past. They have most often received attention in connexion with the occurrence of exophthalmic goitre among children (Cockayne, 1928; Atkinson, 1938; Moolten and Bruger, 1942) while isolated families notably affected by the disease are also ...