Prevalence Of Consanguinity Research Articles

Consanguinity and Diabetes in Saudi Population: A Case-Control Study.

Background and Aim: Diabetes mellitus (DM) of both types is a genetically determined disorder and is prevalent in the Saudi population. Furthermore, the rate of consanguineous marriages is also high among Saudis. Therefore, we aimed to determine the prevalence of consanguinity among people with DM and investigate the effect of consanguinity on the occurrence of diabetes at different levels.Methods: A descriptive cross-sectional study was carried out at the Obesity, Metabolism and Endocrine Center of King Fahad Medical City in Riyadh, Saudi Arabia in January 2021. Information on patients’ demographics (age, gender), family history of DM, and presence of consanguinity, and degree of consanguineous marriage were collected.Results: We included 324 people with DM, 143 (44.1%) with type 1 diabetes (T1DM), and 181 (55.9%) with type 2 diabetes (T2DM). We included 201 people without DM for T1DM control and 300 people for T2DM control. The mean age was 26.6 ± 11.1 years for the T1DM group and 57.8 ± 11.6 years for the T2DM group. Consanguinity was noted among 73 (51.4%) T1DM patients, but T1DM was not significantly related to consanguinity. T2DM was significantly correlated with consanguinity (r=0.132, p=0.004) particularly among patients with a degree of consanguinity as first-cousins for both paternal and maternal sides (odds ratio [OR]=1.151 and 1.476). Gender and positive family history for DM and consanguineous marriage between cousins were significant factors for T2DM. After controlling for gender and a positive family history of DM, consanguineous marriage between cousins from both the paternal and maternal sides remained significant.Conclusion: T2DM occurrence increases in presence of consanguinity in the Saudi population. This relationship might contribute to the higher risk of DM prevalence. Further studies are needed to elucidate this relationship deeply. It’s unclear whether lowering consanguineous marriages would decrease the prevalence of diabetes or not. However, a clear message about this correlation has to be delivered to the public.

Parental consanguinity and congenital heart defects in Afghan children with Down’s syndrome

Abstract
 Background: It seems that parents’ consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down’s syndrome (DS) was determined in Afghanistan’s children population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity.
 Objective: This analytic cross sectional study aimed to determine the frequency and distribution of CHDs in Afghanistan children with Down’s Syndrome as a group in a community with a high consanguineous marriage rate and comparing these with different global studies and populations with low prevalence of consanguinity.
 Methods: This analytic cross sectional study was conducted in a pediatric teaching hospital in Kabul city - Afghanistan, named Maiwand Hospital. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from September 2018–September 2020. Parents’ consanguinity was documented and 2D echocardiography and Doppler studies were performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray for each patient.
 Results: During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 78 children with DS were 35% (42 patients) and 30% (36 patients), respectively. Ventricular septal defect (20.5%) and atrial septal defect (15.3%) were the most common isolated defects. The combination of VSD and PDA (20.5%) were the most frequent multiple CHDs. The most com­mon associations of CHD were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2 % of all parents.
 Conclusions: A higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were almost similar to those reported locally and internationally; VSD was the most frequently detected in this study. Interesting was the predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD in this DS population.
 key words: congenital heart disease, atrioventricular septal defect, Down’s syndrome, trisomy 21, Afghanistan

Newborn screening: Need of the hour

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.

Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.

To determine the demographic pattern of juvenile-onset parkinsonism (JP, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease (PD) in India. We conducted a 2-year, pan-India, multicenter collaborative study to analyze clinical patterns of JP, YOPD, and EOPD. All patients under follow-up of movement disorders specialists and meeting United Kingdom (UK) Brain Bank criteria for PD were included. A total of 668 subjects (M:F 455:213) were recruited with a mean age at onset of 38.7 ± 8.1 years. The mean duration of symptoms at the time of study was 8 ± 6 years. Fifteen percent had a family history of PD and 13% had consanguinity. JP had the highest consanguinity rate (53%). YOPD and JP cases had a higher prevalence of consanguinity, dystonia, and gait and balance issues compared to those with EOPD. In relation to nonmotor symptoms, panic attacks and depression were more common in YOPD and sleep-related issues more common in EOPD subjects. Overall, dyskinesias were documented in 32.8%. YOPD subjects had a higher frequency of dyskinesia than EOPD subjects (39.9% vs. 25.5%), but they were first noted later in the disease course (5.7 vs. 4.4 years). This large cohort shows differing clinical patterns in JP, YOPD, and EOPD cases. We propose that cutoffs of <20, <40, and <50 years should preferably be used to define JP, YOPD, and EOPD.

Recurrent Miscarriage and Consanguinity among Omani Women– A Cross Sectional Study

Objective: to determine the prevalence of explained and unexplained recurrent miscarriages (RM) and to find out if there is a significant relationship between recurrent miscarriages and consanguinity. Methods: A cross sectional in which the cases group included all women with RM attending the outpatient clinic at Sultan Qaboos University Hospital from July 2006 to April 2012 and the controls group included women with no history of RM after matching them with cases for age (case to control ratio was 1:1). The main outcome measures were the prevalence of consanguinity in women with or without recurrent miscarriages. Results: During study period a total of 290 women with RM were seen. Of which, 150 (51.7%) women had unexplained RM. Control group with no history of RM were 300 women. Consanguinity rate among cases (49.5%) %) was less than the controls (52.7 %%). Both first cousin and second cousin marriages were more common in the controls than the cases and it was not statistically significant (p value 0.476, chi squared test). Conclusion: In this study we found that more than half of RM cases were unexplained and there was no significant association between RM and consanguinity.

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia

Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female studies are still limited. The association between consanguinity and socio-demographic information and the prevalence of consanguinity among educated female university students of Princess Nourah Bint Abdulrahman University (PNU), Riyadh, Saudi Arabia, is being addressed in the present study. Methodology: A cross-sectional web-based questionnaire study was conducted randomly among PNU students from October 3 to November 2, 2019. Multivariable data analysis was conducted, and an odds ratio was calculated to identify factors associated with CM and health outcomes. Results: Among the 637 students who completed the questionnaire, consanguinity was significantly higher among participants than their parents, as 37.88% of the 293 married participants had CM. A strong correlation was found between parents and their daughters; consanguinity was highest (52.27%) in the daughters of parents who were in consanguineous marriages themselves. The general high level (91.51%) of awareness about CM’s consequences and their link to genetic diseases was found. However, a lack of knowledge about the type of diseases was noted among participants. Diabetes and blood diseases were the most common diseases in different CM groups. Conclusion: Despite the high levels of awareness, more targeted awareness campaigns are needed, especially among the younger generation.

Barocrinology: The Endocrinology of Obesity from Bench to Bedside.

Obesity has reached pandemic proportions. Hormonal and metabolic imbalances are the key factors that lead to obesity. South Asian populations have a unique phenotype, peculiar dietary practices, and a high prevalence of consanguinity. Moreover, many lower middle-income countries lack appropriate resources, super-specialists, and affordability to manage this complex disorder. Of late, there has been a substantial increase in both obesity and diabesity in India. Thus, many more patients are being managed by different types of bariatric procedures today than ever before. These patients have many types of endocrine and metabolic disturbances before and after bariatric surgery. Therefore, these patients should be managed by experts who have knowledge of both bariatric surgery and endocrinology. The authors propose “Barocrinology”, a novel terminology in medical literature, to comprehensively describe the field of obesity medicine highlighting the role of knowing endocrine physiology for understating its evolution, insights into its complications and appreciating the changes in the hormonal milieu following weight loss therapies including bariatric surgery. Barocrinology, coined as a portmanteau of “baro” (weight) and endocrinology, focuses upon the endocrine and metabolic domains of weight physiology and pathology. This review summarizes the key pointers of bariatric management from an endocrine perspective.

Assessment of role of consanguinity in formation of cleft lip and cleft palate

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

Consanguinity in patients with mesial temporal lobe epilepsy due to hippocampal sclerosis in a Saudi population.

Objectives:To investigate if there is an association between consanguinity and hippocampal sclerosis (HS) in the Saudi population.Methods:A retrospective case-control study was conducted by assessing the prevalence of consanguinity in patients with pathologically proven HS, who underwent epilepsy surgery at King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, between January 2004 and December 2015. We reviewed the medical records to extract data, which included; age, gender, duration of epilepsy, history of febrile seizure, family history of epilepsy in a first or second-degree relative, and pathology reports.Results:A total of 120 patients, out of which 40 patients (65% male) having mesial temporal lobe epilepsy due to HS, and 80 controls (56% male) with cryptogenic epilepsy, were identified. Twenty-two patients (53.5%) in the HS group had a history of consanguinity. In the control group, 30 patients (37.5%) had a history of consanguinity. The odds ratio was 2.04 (95% confidence interval = 0.94 - 4.4, p = 0.052). A family history of epilepsy was found in 28% of the patients with HS and 32.5% cryptogenic epilepsy. Only 8 patients (19.5%) with HS reported a history of febrile seizure.Conclusion:Our retrospective case-control study suggests that consanguinity might increase the likelihood of developing HS.

Consanguineous marriage and its effect on reproductive behavior and uptake of prenatal screening.

The study aimed to determine the prevalence of consanguinity among pregnant women, its effect on reproductive behavior and the uptake of prenatal screening. The sample consisted of 842 pregnant women recruited to a prospective cohort study conducted in twenty-three cities from different regions in Turkey between June 2017 and March 2018. Of the women, 17.7% (n=149) were in consanguineous marriages. The consanguineous couples were younger at the time of their marriages than non-consanguineous couples, and 49% of the consanguineous marriages were arranged. The educational levels of both spouses in consanguineous marriages were lower than those in non-consanguineous marriages. There was a statistically significant difference in the prevalence of the pregnant women having a prenatal screening test between women in consanguineous marriages (53%) and those in non-consanguineous marriages (78.2%). There were no statistically significant differences between the two groups in terms of having health problems during pregnancy, the number of pregnancies, abortions and/or stillbirths, the week of delivery and the birthweight of the baby. Healthcare providers play a key role in eliciting whether or not pregnant couples are consanguineous, providing a tailored risk assessment, education, and counseling about screening and diagnostic tests for early diagnosis and management of the fetus, explaining the testing process and possible outcomes, and helping couples make informed decisions regarding their reproductive options or pregnancy management.

Glanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India.

Glanzmann thrombasthenia (GT) is a globally rare inherited disorder of hemostasis. To describe the clinical profile of GT in a tertiary care center in Southern India. A retrospective chart review of all children with GT was performed between January 2005 and August 2017 in the Department of Paediatrics. A total of 48 patients (representing 43 families) were included. Median age at diagnosis was 2.75 years (interquartile range: 1.5 to 6.75). Two thirds had an onset of bleeding within the first 2 years of life. Sixty-seven percent were born out of consanguineous marriage. The common symptoms were epistaxis, gingival bleeding, and ecchymoses. Neonatal onset of bleeding manifested as purpura, epistaxis, and intracranial hemorrhage. Postsurgical bleeding and menorrhagia were unique presentations in adolescence. About 25% had life-threatening hemorrhage while 50% had growth retardation due to chronic anemia. GT is relatively more common in areas of Southern India due to the higher prevalence of consanguinity. Chronic anemia can contribute to growth stunting in these patients.

Higher Incidence of Graft Rejection in Non-Sibling Fully Matched Related Donor Stem Cell Transplants for Thalassemia Major: A Cautionary Note

▪Only 25-30% of patients with Thalassemia major (TM) will have a suitable HLA-matched sibling donor for an allogeneic SCT. In the absence of a HLA-matched sibling, an extended donor search within the family may yield a suitable donor, especially in societies with a high prevalence of consanguinity. We have previously reported inferior outcomes in patients who had a transplant from a non-sibling family donor. One of the criticisms of this was the issue of low resolution typing, which may have adversely impacted outcomes in some patients. We interrogated this data further to assess whether the poorer outcomes held up to scrutiny with the availability of high resolution HLA typing. Towards this we undertook a retrospective case-control study, adjusting controls for age and Lucarelli risk group (common confounders for clinical outcomes post-transplant in TM) with a 4:1 ratio of controls to cases.All consecutive patients with TM who had a stem cell transplant between the time periods 2007-2017, were included in this retrospective analysis. A total of 371 transplants were done with 281 matched sibling donor, 58 related donors (32 fully matched and 26 with 1-2 antigen mismatch), and 32 MUD donors (24 fully matched (10/10) and 8 with 1-antigen mismatch (9/10)).Subsequent to 2012, high resolution typing was done for all non-sibling related family donors. Of the 58 related donors, high resolution typing was available in 45, with twenty four 10/10 donors, nineteen 9/10 donors and two 8/10 donors. Further analysis was done in this sub-group (excluding the 8/10 donors), with rejection and death being considered as events. A control group from the fully matched sibling donor cohort was generated randomly after adjusting for age and Lucarelli Class.All patients received a myeloablative conditioning regimen (Busulphan/Treosulfan based). In-vivo T-cell depletion was done in 11 (45.8%) of matched related transplants and 54 (56.2%) of matched sibling donor transplants (P=0.359). A PBSC graft was used in 16 (66.7%) of matched related donor transplants compared with 36 (27.5%) of matched sibling donor transplants (P=0.012). There was no difference in the median CD34 cell dose achieved in both groups (Table 1). Table 1 shows baseline characteristics, transplant details and outcomes in the 10/10 matched related donors and fully matched sibling donor groups. Table 2 shows univariate and multivariate analysis for risk factors adversely affecting Thalassemia-free survival (TFS) using Cox regression analysis. The 2-year TFS in the 10/10 matched related donor group, 9/10 matched related donor group and fully matched sibling donor group was 56.8%±10.5%, 56.1%±11.9% and 81.8%±4% respectively (P=0.011) (Figure 1A). The 2-year overall survival (OS) in the 10/10 matched related donor group and 9/10 matched related donor group and the fully matched sibling donor group was 75.4%±9.9%, 64.5%±12.1% and 85.0%±3.7% respectively (P=0.168) (Figure 1B).This data on allogeneic transplants confirms our previous observations that there is a higher risk of graft rejection when the donor is a non-sibling related donor, even if fully matched on high-resolution typing (OR 4.8 ; 95% CI=1.3-18.2 : P=0.02). Transplant physicians must be aware this increased risk and counsel families appropriately. Further modifications in conditioning regimens and GVHD prophylaxis could potentially help in improving these outcomes. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil

BackgroundThere are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. MethodsNeurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. ResultsA total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%). Mean age was 38.4 ± 15.3 years, mean age at disease onset was 25.6 ± 17.3 years, mean disease duration was 12.8 ± 9.7 years, and mean score on the Scale for the Assessment and Rating of Ataxia (SARA) was 18.4 ± 7.7. Patients with recessive pattern of inheritance were younger, had earlier age at disease onset and greater severity of ataxia, measured by the SARA. Diagnosis was confirmed by molecular analysis, laboratory exams or biopsy in 42.56% (n = 20) of these patients. The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3). ConclusionsIn contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.

Schizophrenia and co-morbid obsessive - compulsive disorder: Clinical characteristics

Psychiatric co-morbidity is a common condition, partly due to the overlap of symptoms in the categorical diagnosis of mental disorders. The co-occurrence of schizophrenia (SZ) and obsessive compulsive disorder (OCD) is a common and challenging co-morbid condition. Also, the relationship between SZ and OCD remains unclear. The aim of this study was to describe the co-morbidity of obsessive-compulsive disorder (OCD) among schizophrenia (SZ) patients and compare clinical characteristics of schizophrenia patients with versus without comorbid OCD. A cohort-study was carried out on 396 patients enrolled between November 2011 to June 2014 at the Department of Psychiatry, Rumeilah Hospital in Qatar. We employed the WHO Composite International Diagnostic Interview (WHO-CIDI), and Structured clinical interview for DSM-5 (SCID-5) for diagnoses, the Yale-Brown Obsessive Compulsive Scale Symptom Checklist for scoring OCD. Patients were grouped in SZ patients with and without comorbid OCD (SZ-OCD vs SZ). 396 subjects were interviewed. Age of SZ-OCD patients was 42.69 ± 14.33 (years old) whereas SZ patients without OCD ranged 41.59 ± 13.59 years old. There were statistically significant differences in clinical characteristics between SZ with and without OCD : age (p = 0.010), BMI (body mass index; p = 0.011), education (p = 0.033), employment (p = 0.019), cigarette smoking (p = 0.039), sheesha smoking (p = 0.008), and prevalence of consanguinity (p = 0.043). In particular, the rate of consanguinity in the current generation was 31.8% [95% CI = 29.1-34.7]. Also, there were statistically significant differences at Hamilton Depression score, General Health Score, Clinical Global Impression- Score, duration of illnesses, and Global Assessment of Functioning (p < 0.001). The results show that anxious, mood and psychotic dimensions rated higher among SZ - OCD ones than SZ only patients. This study confirms that SZ-OCD is a common co-morbidity and prevalence of SZ OCD is higher among patients reporting a degree of consanguinity. Even if this condition is under-recognized in clinical practice, it may significantly change SZ presentation and outcome since psychopathological dimensions report higher scores in the co-morbidity sample.

Outcomes Following Allogeneic Stem Cell Transplantation Using Non-sibling Family Donors.

For patients requiring allogeneic stem cell transplant, in the absence of a HLA-matched sibling, an extended donor search within the family may yield a suitable donor especially in societies with a high prevalence of consanguinity. We describe outcomes in transplants with non-sibling family donors, and compare outcomes with controls having a sibling donor transplant. Retrospective analysis of all matched related (non-sibling) donor transplants between 1995 and 2015. For comparison, appropriate age, sex and disease-matched patients were chosen from the sibling transplants (MSD) performed during the same time period (± 2years). Comparison between the fully matched non-sibling donor cohort and age, sex and disease-matched sibling donor transplants showed a significant increase in complications in the family donor group (viral infections, acute GVHD and rejection). Event-free survival and overall survival were significantly lower in the non-sibling donor cohort, and HLA disparity (1-2 antigen) further worsened the adverse impact. Though there was a significantly lower event-free and overall survival at 3years in the family donor cohort, this did not retain significance in the multivariate analysis. This data on allogeneic transplants using family donors showed higher complication rates and poorer outcomes. However in situations where financial constraints prevent access to matched unrelated donor sources, extended family searches may be fruitful in yielding a donor, and modifications in conditioning regimens and improvement in supportive care may help in improving the outcomes in family donor transplants.

Campylobacter infection in adult patients with primary antibody deficiency

Campylobacter infection in adult patients with primary antibody deficiency

The influence of consanguinity on reproductive health in a population of western Algeria (SABRA)

Background Inbreeding refers to unions between two people with at least one common ancestor. The practice of this type of marriage in Algeria and in the Arab-Muslim world is still commonplace. The purpose of this study is to determine the prevalence of consanguinity and to examine the impact of this practice on a few health parameters, including reproductive health: fertility, prenatal, perinatal, neonatal and postnatal mortality. Methods A prospective cohort study was conducted on 123 people randomly recruited from the Sabra Public Health Proximity Institution (EPSP). The data were collected using a pre-established questionnaire, which included questions about women's clinical, sociodemographic, and reproductive history characteristics. These data were processed by the khideux test. Results The consanguineous unions all degrees combined in our population represent a proportion of 33.33% with a slight preference for unions between first cousins. Our results also show an early marriage age and increased fertility, as well as a significant association between consanguinity and reproductive health (abortion, mortality, and morbidity). Conclusion Consanguineous marriage seems to be a predictive risk factor for certain fitness parameters, which is why setting up a health education program is fundamental to targeting prevention in terms of risk, which can have adverse effects on health, particularly the reproductive health that can weigh heavily on the family and the community.

Nonsyndromic orofacial clefts among Jews and non-Jews born in 13 hospitals in Israel during 1993-2005.

Orofacial clefts are one of the most common birth malformations and represent a significant public health economic expenditure. The purpose of this investigation was to study the epidemiology of orofacial clefts in newborns from 1993 to 2005 in Israel. In addition, a comparison of data from the National Birth Defects Registry (NBDR) and Hospital records will be made. A retrospective data review of reports to the Israeli NBDR on infants with orofacial clefts in comparison with records reviewed at 13 major hospitals, accounting for 60% of all births in Israel. Of 1334 newborns found to be with orofacial clefts all over Israel between 1993 and 2005, 1015 were reported to the NBDR and 319 were unreported but retrieved from hospital files. During this period, of the 976 578 live births found in the 13 participating hospitals, there were 866 newborns with orofacial clefts. Of those, 684 (79%) were nonsyndromic orofacial clefts and 182 (21%) had additional syndromes. The prevalence of nonsyndromic orofacial clefts was 7/10 000 live births, lower than reported outside Israel. Only 65% of orofacial clefts retrieved from the 13 hospitals were reported to the NBDR. A significantly higher orofacial cleft prevalence was found among non-Jews than Jews (11 and 6 of 10 000 live births, respectively), (P < .00 001). CL/P was found more frequently than isolated cleft palate (CP). More males had orofacial clefts than females, mostly unilateral with left side predominance. The prevalence of nonsyndromic orofacial clefts was found to be 7/10 000 live births. The higher orofacial cleft prevalence among non-Jews may be explained by the high prevalence of consanguinity and deprived maternal nutritional status in this population.

Infant deaths from congenital anomalies: novel use of Child Death Overview Panel data

ObjectiveWe aimed to assess Child Death Overview Panel (CDOP) data validity, and cause of death classification, by comparison with information from a local birth cohort study (Born in Bradford, BiB),...

Prevalence of consanguinity and inbreeding coefficient in Kashmore District, Sindh, Pakistan

Prevalence of consanguinity and inbreeding coefficient in Kashmore District, Sindh, Pakistan