Cardiofaciocutaneous (CFC) syndrome is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by growth failure, distinctive facial appearance, ectodermal abnormalities, and congenital heart defects1. Around 100 cases have been reported in literature to date. We describe here a child with features of cardiofaciocutaneous syndrome. Parental consanguinity and occi...

A new syndrome of oligohydramnios, Potter's syndrome, and anuric renal failure leading to stillbirth or neonatal death from respiratory failure has recently been described. Histologically, there is renal tubular dysgenesis, especially of the proximal tubules, and apparent glomerular crowding. To date, five families have been reported, in four of which there have been affected sibs and in two pa...

BACKGROUND Associations between family history of colorectal cancer (CRC) in first degree relatives and risk of developing cancer have been well defined, but interactions with environmental, lifestyle and dietary factors are much less clear. AIM The aim of this study was to evaluate family history, lifestyle and dietary factors associated with developing colorectal cancer in an Arab populatio...

OBJECTIVES Consanguinity has been a long standing social habit among some Iranians. This study is aimed at determining the role of consanguinity on congenital malformations and the correlation of inbreeding coefficient with anomalies. METHODS In this cross-sectional study, all the newborns who were born during 9 months period from April to December 2008. (n=1195) at Shahid Sadoughi hospital, ...

Aims and Objectives: The objective of the present study is to assess the genetic composition of the two subgroups of Salis and the extent of genetic differentiation among them with the help of various demographic and genetic variables. Materials and Methods: A total of 520 couples belonging to two sub-groups namely, Padmasalis and Pattusalis residing in and around Visakhapatnam and Vizianagaram...

The north-western populations of Pakistan in the Federally Administered Tribal Areas (FATA) adjoining the Pakistan-Afghanistan border are an amalgamation of native and migrated Pashtun tribes. These tribal populations are in transition due to war conditions and geo-political turmoil on both sides of the border since the Soviet invasion in 1979. Bio-demographic and epidemiological data for these...

There is conflicting evidence about the effect of parental consanguinity on fetal growth. Previous studies have not always allowed for other factors that are known to affect birth weight, in particular, gestational age, parity, and maternal height. We have therefore studied this question in the Pakistani Moslem population in Birmingham. Babies born to parents who were first cousins were on aver...

This hospital-based, case-control study investigated the possible associations between family history of malformations, parental consanguinity, smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft lip with or without cleft palate and CP - cleft palate alone). 274 cases were matched (age, sex and place of residence) to 548 controls. Odds ra...

More than 60% of prelingual deafness is genetic in origin, and of these up to 93% are monogenic autosomal recessive traits. Turkey has been continually inhabited since ancient times with traditional settlement of small and isolated villages. There is a high level of both parental consanguinity and assortative mating among the deaf and a long history of the use of sign language. All of these fac...