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PubMed2000

Calculation of recurrence risks for heterogeneous genetic disorders.

We present general formulae for several common situations in the genetic counseling of heterogeneous disorders. The occurrence or not of parental consanguinity is taken into account, since it distorts significantly the prior probabilities favoring the different mechanisms. Nonsyndromic deafness is used as a numerical application, since it can be produced by any type of monogenic inheritance and can be mixed with variable proportions of environmental cases. Recurrence risks are calculated including or not including environmental factors in the origin of the defect. In underdeveloped countries the proportion of environmentally determined cases of deafness is significantly higher than in first-world countries. Therefore, when environmental causes cannot be excluded, recurrence risks are always higher in developed than in developing countries. On average, when parental consanguinity is present there is a significant increase in recurrence risks for deafness, whether environmental factors are included or not.

Consanguinity↗

PubMed2000

Newly recognised craniosynostosis syndrome that does not map to known disease loci.

We describe a consanguineous family of Pakistani origin with five sibs, three of whom were affected by craniosynostosis of variable presentation. In addition, they had other congenital abnormalities principally affecting neurological, ocular, and limb development. We provide linkage evidence using intragenic and flanking microsatellite markers suggesting that the disease in this family was not caused by a mutation in one of the known craniosynostosis loci (FGFR1, FGFR2, FGFR3, MSX2, TWIST). Given the clinical novelty and parental consanguinity, we hypothesise that the affected individuals were autozygous for a recessively inherited mutation, at a novel locus, predisposing to craniosynostosis.

Child↗

PubMed1984

Familial hemophagocytic lymphohistiocytosis (FHLH) in Israel. I. Description of 11 patients of Iranian-Iraqi origin and review of the literature.

Eleven patients with familial hemophagocytic lymphohistiocytosis (FHLH) are described. They all belonged to four Jewish families of Iranian and Iraqi origin. Parental consanguinity was found in three families. The age of onset of disease ranged from 6 weeks to 36 months. All patients had fever, wasting, and enlargement of the liver and spleen. In addition, lymph-node enlargement and neurologic complications were common. The most consistent laboratory findings were pancytopenia, atypical lymphomonocytoid cells in the peripheral blood, abnormal liver function test results, and increased cerebrospinal fluid protein. The course was fatal in all patients. Nine of the 11 patients died within 2 weeks to 3 months of presentation, and 2 patients achieved temporary remissions but died of disease within 8 and 24 months, respectively. Response to antibiotic therapy or to the administration of corticosteroids and cytotoxic drugs was unimpressive. Pancytopenia complicated by sepsis or bleeding, hepatic failure, or encephalopathy were the terminal events. This report draws attention to the existence of FHLH in Jews of Iranian-Iraqi origin in whom parental consanguinity is very common.

Child, Preschool↗

PubMedDate not supplied

Length of marriage and its effect on spousal concordance in Kuwait.

It was hypothesized that marriage duration affects physical and cultural homogamy and spousal concordance in Kuwaiti marriages. Westernization increased spousal correlations due to fewer arranged marriages and increased individual spousal choice. Spousal similarities for selected physical and cultural traits were also examined for couples married 15 years or less, 16 to 30 years, and 31 years and more. Consanguineous couples belong to the al-Kandari, one of the largest and most important kindreds in Kuwait, who traditionally married kin and continue to do so. Six physical measurements and blood pressure were taken along with a sociocultural questionnaire to examine cultural preferences. In all, 242 couples (484 people) participated; 62 couples were in non-consanguineous unions. It was hypothesized that in shorter-duration unions spouses would be more alike for physical and cultural traits. For physical traits, results for stature, weight, the body mass index, and hip circumference are congruent with the hypothesis, whereas results for the triceps and subscapular skinfolds, waist circumference, and systolic and diastolic blood pressure are not. Overall, for some traits spouses are more alike than in previous generations, and specific aspects of similarity among long-term spouses reflect historical and cultural phenomena.

Adult↗

PubMed1980

Autosomal recessive microcephaly and micromelia in Cree Indians.

In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.

Consanguinity↗

PubMed1983

Inbreeding studies in Brasilian schoolchildren.

We present results of comparisons between consanguineous and control couples and their children in Southern Brasil. Multiple regression, t-test and chi 2 analyses were applied to the data. The following variables were investigated; Parents: structure of first cousin marriages, latitude and longitude of birthplaces, cohabitation time, rurality, marriage age, occupation, number of liveborn children, and frequency of twinning. Schoolchildren: clinical data as classified into 24 discontinuous traits, each one subdivided into two categories (number and severity), and seven continuous traits (weight, height, pulse rate, respiratory rate, systolic pressure, diastolic pressure, and temperature); nutrition indices and biotype; family names; intelligence tests and school performance; birth order, age, hair color, hair type, eye color, and skin color; twinning in the sibship, and infant mortality among sibs of the propositi. Our study showed a) nonrandomness of consanguineous marriages as detected on structural, racial, geographical, and temporal levels; b) a heavy mutational load of about 1.5 lethons acting on infant mortality; c) no inbreeding effect on morbidity in general (with a possible exception of "ear morbidity", including hearing deficit); d) a modest inbreeding depression on height (a decrease of 2 cm with an increase of 10% of inbreeding); 3) a suggestion of inbreeding depression on "intelligence".

Brazil↗

PubMed1984

The Meckel syndrome in Finland: epidemiologic and genetic aspects.

Estimates of the incidence of the Meckel syndrome (MS) from different parts of the world vary from 1:140,000 to 1:13,250 births. In this nationwide study performed in Finland, the incidence of 1:14,400 births was found by retrospective ascertainment during the period 1970-1979, while the incidence was 1:8,500 births when prospective monitoring was performed in 1980-1981. The most probable incidence in Finland is about 1:9,000 births. Autosomal recessive inheritance of MS is confirmed in this study. The ratio of affected sibs, corrected for truncate complete ascertainment, was 0.261. No consanguinity between parents was found, as marriages between close relatives are rare in Finland and the ancestors were not traced back far enough to find remote consanguinities.

Abnormalities, Multiple↗

PubMed1985

The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.

We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1988

Inbreeding in outport Newfoundland.

We investigated inbreeding in 3 outport Newfoundland study areas in which persistent genetic isolation was demonstrated previously. The inbreeding coefficient of every person born in each area was calculated from reconstructed pedigree data. The average inbreeding coefficient for persons born between 1960 and 1979 is 0.0032 in Trepassey Parish (southern Avalon Peninsula), 0.0171 for a group of communities on the west coast of the Great Northern Peninsula, and 0.0007 for southeastern Labrador. Average inbreeding of these populations was higher earlier in this century. Averages are high compared to those reported for other populations, consistent with genetic isolation. Coefficients of kinship were calculated for large samples of pairs of births in each study area, and frequency distributions of inbreeding coefficients compared with frequency distributions of kinship coefficients, to evaluate random and nonrandom mating with respect to consanguinity. These comparisons show that matings between unrelated individuals are more frequent than expected, that matings between first cousins are not strongly avoided in 2 of the 3 study areas, that matings between first cousins once removed are favored, and that matings between distantly related individuals are becoming more frequent. To gain an impression of the potential contribution of inbreeding to the prevalence of recessive disease, we calculated indirect estimates of the expected excess of prereproductive mortality due to inbreeding. These estimates are 15% for Trepassey Parish, 49% for the West Coast study area, and 2% for southeastern Labrador. It is unlikely that genetic isolation of outport Newfoundland populations will decrease. Elevated prevalences of recessive disease, due primarily to matings between persons unaware of their distant consanguinity, therefore require consideration in health care planning in Newfoundland.

Consanguinity↗

PubMed1989

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.

We report a 6-month-old boy, born of consanguineous (first-cousin) parents (F = 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small "blind dimple" in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and halluces. This association of anomalies suggests the diagnosis of a "new" type of acro-fronto-facio-nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.

Consanguinity↗

PubMed1989

Familial duodenal atresia: a report of two families and review.

We report on 2 families with recurrence of uncomplicated duodenal atresia. The presence of consanguinity in one family, the frequent occurrence of consanguinity in parents of affected children previously reported, and the equal sex ratio suggest autosomal recessive inheritance.

Consanguinity↗

PubMed1989

Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.

We report on a brother and sister with hyperinsulinism and nesidioblastosis of the pancreas. In addition, one brother and one sister who died in the neonatal period were probably affected. The parents of these children were healthy and consanguineous. We think that this is strongly suggestive of autosomal recessive inheritance. Seven other reports of presumed autosomal recessive hyperinsulinism are reviewed. To our knowledge, we report the first case in sibs whose parents were consanguineous. We think that early recognition of the condition is of obvious importance not only for therapy, but also for purposes of genetic counseling.

Consanguinity↗

PubMed1990

Evidence for a major gene in familial anencephaly.

A 21-year-old white woman sought counseling after the birth of two consecutive anencephalic male fetuses with complete rachischisis and discordant renal dysplasia. The presence of parental consanguinity prompted reconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably nonconsanguineous families previously reported. Using classical segregation analysis, the segregation ratios in the non-sporadic cases were consistent with a major autosomal recessive locus in both populations.

Abortion, Spontaneous↗

PubMed1991

Neu Laxova syndrome in two Egyptian families.

We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.

Abnormalities, Multiple↗

PubMed1991

Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.

We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.

Abnormalities, Multiple↗

PubMed1992

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Abnormalities, Multiple↗

PubMed1994

Additional case of opsismodysplasia supporting autosomal recessive inheritance.

The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.

Bone Diseases, Developmental↗

PubMed1995

Arthrogryposis multiplex congenita in an Arab kindred: update.

We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non-myopathic) type of arthrogryposis. This is an autosomal recessive trait with wide variability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder.

Arthrogryposis↗