Dental agenesis is a commonly encountered dental anomaly that affects more than 20% of the human population. It can be categorized as hypodontia, oligodontia, or anodontia. Oligodontia occur either an isolated finding part syndrome, and causative factor environmental genetic. : This report describes three cases isolated, non-syndromic tooth with single/ multiple missing permanent teeth. No othe...

BACKGROUND While parental consanguinity is known to increase the risk of birth defects in offspring, it is hard to quantify this risk in populations where consanguinity is prevalent. METHODS To support ongoing studies of cancer and of psychiatric disease, we studied relationships of consanguinity to 1,053 major birth defects in 29,815 offspring, born in 1964-1976. To adjust for confounding va...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

Objective: Purpose of this study is to determine the frequency keratoconus with consanguinity. Study Design: Comparative/cross-sectional Place and Duration: This comparative/cross-sectional was conducted at Shahida Islam Medical Dental College Lodhran Jinnah International Hospital, Abbottabad in period from May, 2022 October, 2022. Methods: Total 53 patients were presented study. Included aged ...

To test the effects of parental consanguinity on mortality among offspring, inbreeding coefficients were estimated for 303,675 members of the Utah Mormon population who were born between 1847 and 1945. Although consanguinity has been relatively rare in this population, the large sample size permitted the identification of more than 3,500 inbred offspring. Among the offspring of unrelated parent...

OBJECTIVES To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC) and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. METHODS All infants (114,035) born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133) we...

BACKGROUND Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION A novel, homozygous mutation (c.[589_592inv;592_593insA])...

A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's sy...

pachyonychia congenital (pc) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. a 39-year-old woman with pc type 1 (jadassohn-lewandowsky syndrome) and b-cell lymphoma is described. no similar disorders or parental consanguinity were found in her family. typical features of pc developed si...