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PubMed2002

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.

Primary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is exclusively described in sporadic cases and no hereditary component has yet been reported. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Here, we report two consanguineous families containing a total of four affected patients manifesting primary intraosseous vascular malformation (VMOS (vascular malformation osseous)) of the craniofacial region. The phenotypic expression is remarkably similar in both families. The characteristic findings include severe blood vessel expansions within the craniofacial bones and midline abnormalities such as diastasis recti, supraumbilical raphe, and hiatus hernia. Malformation is restricted to the mandibular and maxillary area in the prepubertal age, and rapid expansion starts after age 12 or 13. A 15-year follow-up of one of the patients demonstrated that the vascular malformation did not extend beyond the craniofacial region despite severe involvement of almost all bones in the skull. Detailed clinical and radiological evaluation provided neither evidence of soft-tissue involvement nor any sign of gross arterial, venous, or combined malformations, indicating that bone changes are a primary rather than a secondary effect due to any other vascular anomaly in the craniofacial region. An antibody against a universal proliferation marker, Ki-67, detected nonproliferative, single-layered endothelial cells, suggesting that this abnormality is a vascular malformation rather than a hemangioma. alpha-actin staining (antibody against perivascular tissue such as smooth muscle cells (SMCs) and/or pericytes) demonstrated that pathologic vessels lost their surrounding supportive tissues, as was previously seen in other types of vascular anomaly. Homozygosity mapping excluded the following loci and/or genes: multiple cutaneous venous malformation (VMCM1; gene, TIE2) on chromosome 9p21; venous malformation with glomus cells (VMGLOM) on chromosome 1p22-p21; hereditary hemorrhagic telangiectasia type 1 (HHT1; gene, endoglin) and type 2 (HHT2; gene, activin) on chromosomes 9q34.1 and 12q11-q14, respectively; and cerebral cavernous malformation type 1 (CCM1; gene, KRIT1), type 2 (CCM2), and type 3 (CCM3) on chromosomes 7q11.2-q21, 7p15-p13, and 3q35.2-q27, respectively. To the best of our knowledge, this is a new disorder, which we call hereditary intraosseous vascular malformation of the craniofacial region.

Antigens, CD34↗
PubMed2002

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. Differences in the clinical expression have been mainly attributed to MEFV allelic heterogeneity. Homozygotes for the M694V mutation have a more severe form of the disease and more frequently demonstrate articular and renal complications. The clinical manifestations associated with mutation M680I are considered less severe. Mutations E148Q, K695R and V726A have reduced penetrance, and many individual homozygotes or compound heterozygotes for these mutations remain asymptomatic. Here we report on one inbred family with 13 individuals (one grandparent, three parents, and nine grandchildren), either homozygotes or compound heterozygotes, for one or two of four mutations (V726A, M694V, M680I, and K695R). Three parents and one grandparent who each carried two mutated alleles remained asymptomatic. Of nine grandchildren who were compound heterozygotes for two mutations in the MEFV gene, only those with either the M694V/V726A or the M694V/M680I genotypes manifested the disease, bearing further evidence to the severity of mutation M694V in individuals sharing a similar genetic and environmental background. Nevertheless, one father and one grandmother who carried the M694V/V726A compound heterozygous genotype were symptom-free, while the four grandchildren with the same genotype manifested the disease from early age, providing further evidence for the role of additional environmental and genetic modifiers. The occurrence of four different mutations in two sets of consanguineous parents merits consideration per se.

Consanguinity↗
PubMed2002

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

The Smith-Lemli-Opitz syndrome (SLOS), or RSH syndrome, is a well-characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with pre- and perinatal mortality. The condition is due to the deficient activity of the enzyme 7-dehydrocholesterol (7-DHC) reductase [Shefer et al., 1995: J Clin Invest 96:1779-1785], and the gene has been mapped to chromosome 11q13 [Moebius et al., 1998: Proc Natl Acad Sci USA 95:1899-1902]. We describe here a consanguineous family of Syrian-Lebanese ancestry with three sibs affected with SLOS: two with a mild variant, while the other had severe disease and died in the first year of life. Mutation analysis demonstrated a novel mutation in the DHCR7 gene, present in homozygous form in the two affected individuals available for testing, and heterozygous in the parents. The wide intrafamilial variation of clinical severity in these three sibs is an important finding in SLOS.

Canada↗
PubMed1979

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.

We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes.and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil-red-O positive material but is Oil-red-O negative after extraction; it has the typical reactions of melanin withe the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium. This mutation principally affects the neuroectoderm, but also the mesoderm.

Child, Preschool↗
PubMed1979

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.

Adolescent↗
PubMed1979

The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.

We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.

Adolescent↗
PubMed1979

Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.

We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.

Bone Diseases, Developmental↗
PubMed1980

Acro-renal-mandibular syndrome.

We report two female sibs, with severe split-hand/split-foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro-renal "syndrome" in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.

Consanguinity↗
PubMed1980

The Meckel syndrome in the Hutterites.

At least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.

Canada↗
PubMed1980

Genetic studies on Cochin Jews in Israel: 1. Population data, blood groups, isoenzymes, and HLA determinants.

The period in which Jews were first associated with Cochin and the Malabar coast was by tradition, after the destruction of the First Temple (586 BCE). Yet, the earliest evidence of Jewish settlements is from the tenth century CE. The largest group of Cochin Jews are the "Black Jews," of whom about 4,000 live in Israel. A high frequency of consanguineous marriages prevailed among Cochin Jews. Their mean height and weight were low when they came to Israel in 1954; an increase in both was observed 20 years later. Some of the allele frequencies of blood groups, isoenzymes, and HLA antigens were similar to those in other Jewish communities. In the high O, M, cde, and HLA-A28 and the low cDE allele frequencies Cochin Jews resembled Yemenite Jews. A few allele frequencies, the high Fya, AK2 and the low Jka and Hp1, were similar to those observed in indigenous southern Indian populations. In most HLA antigen and haplotype frequencies the Cochin Jews showed a distribution similar to that observed in other Jews and Caucasoids. No comparable HLA data on southern Indian populations were available. The results indicate that Cochin Jews have similarities with Jews, in particular Yemenite Jews, and with the indigenous populations of southern India.

Anthropometry↗
PubMed1980

Multiple pterygium syndrome.

We describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and "rocker-bottom" feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.

Abnormalities, Multiple↗
PubMed1980

Genetic diseases in Lebanon.

Lebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities. Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants. Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve-Melchoir-Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases. Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.

Consanguinity↗
PubMed1980

Short rib-polydactyly syndrome, Majewski type.

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.

Abnormalities, Multiple↗
PubMed1981

Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship.

Spondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.

Anus, Imperforate↗
PubMed1981

Prenatal diagnosis of Maroteaux-Lamy syndrome.

Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was confirmed by 35S-sulfate studies and postmortem enzymology and electron microscopy. The prenatal diagnosis of Maroteaux-Lamy syndrome remains problematic. Residual activity of arylsulfatase-B in the affected homozygote can make interpretation difficult, and the behavior of many lysosomal enzymes varies greatly in response to tissue culture conditions and enzyme extraction processes.

Adult↗
PubMed1981

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.

We report a nonprogressive neurological disorder in at least 11 Hutterites with healthy but consanguineous parents. In several of the affected, hypotonia was noted at birth. Retarded motor and mental development became apparent during the first year of life. The age of unsupported walking varied from 5-21 years. Consistent signs were unsteady, broadly based gait and stance, exaggerated deep tendon reflexes mainly in the lower limbs, and mild to moderate mental retardation. Variable signs were extensor plantar reflexes (9/11), short stature (-2SD in 8/11), strabismus (7/11), small muscle mass (6/11), mild intention tremor (3/11), cataracts (1/11), and epilepsy (1/11). CAT scans in two affected sisters showed slight enlargement of the fourth ventricle in one and hypoplasia of the cerebellum in both. The disorder is probably the same as that described earlier under the heading, dysequilibrium syndrome.

Adolescent↗
PubMed1982

Aplasia cutis congenita in two sibs discordant for pyloric atresia.

We report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)-like disorder and pyloric atresia. a recombination event involving the EB-pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. Prenatal diagnosis is suggested by monitoring alpha-fetoprotein levels in aminotic fluid.

Abnormalities, Multiple↗
PubMed1982

Sacroiliitis in the Old Order Amish.

In a study designed to clarify the relationship of HLA-B27 and sacroiliitis, 45 members of seven Old Order Amish families were thoroughly evaluated for sacroiliitis. The primary study group was three sibs who carried HLA-B27 and three of their sibs who inherited the alternate non-B27 haplotype, their spouses and offspring. The seventh B27 positive family was more distantly related. The study was undertaken with no prior knowledge of disease in these families. These families represented all the B27-positive subjects who had been ascertained up to the time the study began. In these selected families, 24% of the members were found to have sacroiliitis, irrespective of whether they were B27 positive. Analysis of the relevance of HLA to disease in this kindred was confounded by the presence of Bw39 and B17, antigens associated with psoriatic arthritis. However, not all B27-negative cases possessed one or both of these specificities. Rather than clarifying the relationship of B27 to disease, this study, in a highly consanguineous kindred, indicated that other nonlinked loci may be epistatic to B27, that other HLA alleles may be involved, or that certain causes are more prevalent in the Amish than in the non-Amish population.

Adolescent↗