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PubMed1981

Possible autosomal-recessive ocular coloboma.

Ocular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait. Possible autosomal recessive inheritance is suggested by the presence of colobomatous malformations in a brother and sister whose parents have apparently normal eyes. Possible genetic heterogeneity of isolated ocular coloboma makes genetic counseling in sporadic cases difficult since cases may be due to autosomal dominant and autosomal recessive mutations and nongenetic causes.

Child, Preschool↗
PubMed1983

Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal-recessive.

Bone Diseases, Developmental↗
PubMed1985

Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.

Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.

Consanguinity↗
PubMed1986

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.

We report on a patient with oculo-dento-osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first-cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.

Bone and Bones↗
PubMed1988

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

Blyth and Ockenden [1971] assigned patients with autosomal recessive polycystic kidney disease (ARPCKD) to 4 discrete groups (perinatal, neonatal, infantile, juvenile) on the basis of the age of presentation. They and others speculated that at least 4 genes were responsible for what they considered to be closely related, but different conditions. These views have gained wide but not universal acceptance. Some workers have insisted that the perinatal and neonatal "forms" of ARPCKD differ fundamentally from the juvenile "form." However, others have proposed that ARPCKD-CHF (congenital hepatic fibrosis) and CHF-ARPCKD are manifestations of the same disease with variation of expression in a kindred. We report on a patient who presented at birth (1979) with ARPCKD and respiratory distress. He died at 18 hr. An older sib presented at 16 yr in 1984. She had no symptoms, but her mother wanted reassurance that the daughter did not have a condition similar to that of the deceased sib. Blood pressure was 120/80 mm Hg and there was hepatosplenomegaly. A diagnosis of renal tubular ectasia and CHF was made by ultrasonography, radiologic studies, and a liver biopsy. The evidence from families such as this favors the concept that ARPCKD and CHF presenting as Blyth and Ockenden's perinatal form, and CHF and renal tubular ectasia as their juvenile form, are manifestations of the same genetic disorder, and that the different manifestations are more likely variations in expression than the results of different mutant genes. The manifestations in this family add weight to the growing body of evidence that intrafamilial variability may occur, not only in autosomal dominant conditions, but also in autosomal recessive disorders.

Adolescent↗
PubMed1988

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1989

Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency.

Familial Mediterranean fever (FMF) is a recurrent episodic inflammatory disorder of unknown pathogenesis that occurs with high frequency in non-Ashkenazi Jews and Armenians. However, there are some differences in the clinical manifestations of FMF in these ethnic groups. FMF has been reported to be an autosomal recessive disease in non-Ashkenazi Jews, with a male/female ratio of 1.7, indicating reduced penetrance in females. However, the inheritance is less clear for Armenians. To resolve this problem, we studied prospectively families of 64 Armenian index cases randomly ascertained at the UCLA FMF clinic. Fifty-three families containing 176 sibs in addition to the probands were analyzed by genetic segregation analysis (exclusions included: six single-child families, four families in which one of the parents was also affected, and a family with incomplete information). Upper and lower bounds of the segregation ratio were estimated, and ranged from .10 +/- .03 to .18 +/- .05 when only definitely affected sibs were classified as affected; .17 +/- .04 to .27 +/- .05 when considering "possibly affected" sibs as affected; and .19 +/- .04 to .30 +/- .05 when incomplete penetrance in females was corrected. A value of .25 is the expected segregation ratio for autosomal recessive inheritance, and our data are consistent with this mode of inheritance. We can reject autosomal dominant inheritance, where the expected segregation ratio is .5. Using extended pedigree data, we calculated an FMF gene frequency of 0.073 and a carrier rate of 1/7, which is about four times the frequency in non-Ashkenazi Jews.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

Recessive inheritance of a high number of sodium pump sites.

The number of sodium pump sites on erythrocytes was measured on 1,847 individuals in 80 Utah kindreds ascertained through probands with cardiovascular disease. Likelihood analysis supported recessive inheritance of high pump number. The major locus explained 14.0% of the variance in pump number; polygenic inheritance explained another 63.4%. Homozygotes for the recessive allele occurred with a frequency of 1.74% and had a mean pump number estimated as 566.0 sites/red blood cell (RBC) versus a mean of 312.2 sites/RBC for the other genotypes. Young individuals with the high pump number genotype were leaner, and older adults with the high pump number genotype were heavier. Diabetes and early hypertension were more prevalent in women with the high pump number genotype. Although not significant, obesity in adults of both sexes and early coronary heart disease in men were more prevalent in individuals with the high pump number genotype.

Body Weight↗
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↗
PubMed1992

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are non-specific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin-K-epoxide-reductase deficiency, chromosome trisomies 18 and 21, the Smith-Lemli-Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46-X,+der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X-linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well-defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X-linked dominant type with presumed male lethality, and an X-linked recessive type that has only been described as part of a contiguous gene deletion syndrome.

Chondrodysplasia Punctata↗
PubMed1993

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

Adult↗
PubMed1994

Autosomal recessive colobomatous microphthalmia.

Colobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found in the Iranian Jewish community.

Adult↗
PubMed1994

Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.

Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome.

Adolescent↗
PubMed1995

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.

Cholestasis, Intrahepatic↗
PubMed2003

Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.

Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.

Abnormalities, Multiple↗
PubMed2004

A family with X-linked recessive fusion of metacarpals IV and V.

We describe a family with a distinctive malformation of the hand consisting of the fusion of the 4th and the 5th metacarpal bones. Usually this anomaly is clinically recognizable by an ulnar deviation of the 5th finger; moreover, the 5th metacarpal is usually hypoplastic and the 5th ray is consequently short. There is, however, great variability in expression, so the degree of fusion may range from minimal to complete and also the external aspect of the hand may vary. This anomaly can be either isolated or part of a syndrome. For the isolated form, two possible hereditary mechanisms have been proposed: autosomal dominant and X-linked recessive. Our family is consistent with the latter, with only affected males and no instances of male-to-male transmission. Of note, there are very few X-linked recessive disorders that affect the hand in a such a specific way.

Adolescent↗
PubMed2004

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographic differences. Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations.

Adolescent↗
PubMed2004

Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

Our aim was to evaluate "cascade testing" as a method of screening a population for autosomal recessive disorders. We used computer simulations to estimate screening performance according to carrier frequency, whether testing would extend to siblings, first or second cousins of identified carriers and family size. Cascade testing in populations with the distribution of family size current in England and Wales would require locating and testing a small proportion of the population as expected, but would detect few cases. For cystic fibrosis (carrier frequency of 4%), testing all siblings and first cousins of all identified carriers would require locating and testing only 1.9% of the whole population, but would detect only 15% of all new cases. Similarly for congenital adrenal hyperplasia (carrier frequency of 1%), testing all siblings and first cousins of all identified carriers would require locating and testing only 0.1% of the whole population, but would detect only 3.1% of all new cases. The detection rate increases with increasing carrier frequency, family size and extending the testing to second cousins of identified carriers, but at the cost of greater increases in the proportion of the population located and tested. The performance of cascade testing is too poor to justify its introduction into practice as a screening test for any autosomal recessive disorder.

Computer Simulation↗