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PubMed1985

Multiple sclerosis: abnormalities in luminance, chromatic, and temporal function at multiple retinal sites.

Visual function was assessed in a group of patients with multiple sclerosis (MS) and in a group of matched normal controls. In these patients the disease was relatively mild. For each subject, measures of a range of psychophysical visual functions were carried out at multiple sites in each eye. Previous reports have only included some of these functions. Here, luminance threshold, two-flash resolution, perceptual latency, luminance critical flicker frequency (CFF), and chromatic CFF were all measured. Variabilities of these functions and correlation between chromatic and luminance CFFs were also evaluated. For both the MS group and the normal control group, the correlations between pairs of visual parameters were not overall significantly greater than chance level. The MS group did give a significantly reduced value relative to the normal group for luminance CFF and for the gradient of the plot of chromatic CFF against luminance CFF. This group was then subdivided according to history of visual involvement. The subgroup with previous visual symptoms had significant impairment for luminance threshold, variability of luminance threshold, luminance CFF, variability of two-flash resolution, and for the gradient of the plot of chromatic CFF against luminance CFF. The subgroup without previous visual symptoms showed no significant impairment for any individual parameter, although the gradient of the plot of chromatic CFF against luminance CFF was lower than normal.

Adult↗

PubMed1988

Morphology of the adrenal medulla indicating multiple neuroectodermal abnormalities in pheochromocytoma patients.

25 of 85 (29.4%) consecutive patients operated on for pheochromocytoma had other neuroectodermal abnormalities. Medullary thyroid carcinoma was the most common associated neuroectodermal abnormality followed by von Recklinghausen's neurofibromatosis. Other abnormalities were intracranial tumors, parathyroid hyperplasia and midgut carcinoid. The adrenal medulla was studied to find out morphological characteristics in patients with associated neuroectodermal abnormalities. All patients with multiple pheochromocytomas (n = 7) and all patients with hyperplasia of the extratumoral adrenal medulla (n = 13) had other neuroectodermal abnormalities. It is important to detect the associated neuroectodermal abnormalities because they can be lethal. Patients with associated neuroectodermal abnormalities often have hereditary syndromes.

Adrenal Gland Neoplasms↗

PubMedDate not supplied

A family study of cases with unidentified multiple congenital abnormality.

A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6% sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1% of fathers and 4.2% of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0% and 3.5%, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5%. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78% of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.

Abnormalities, Multiple↗

PubMed1986

Patterns of auditory abnormality in multiple sclerosis.

This paper stresses the relatively high prevalence of auditory abnormality in multiple sclerosis. An auditory test battery consisting of the acoustic reflex (AR), the auditory brainstem response (ABR), the masking level difference (MLD) and speech audiometry (SA) was administered to 62 patients with diagnosed 'definite' multiple sclerosis. The AR showed the highest identification rate (71%). SA was next (55%), followed by the ABR (52%) and the MLD (45%). The combination of an abnormality on either AR, ABR or SA yielded a 90% identification rate. Interestingly, the combination of AR or SA or MLD yielded an 87% identification rate without any contribution from ABR.

Adult↗

PubMed1990

Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

Sonography permitted the diagnosis of Fraser syndrome (cryptophthalmos-syndactyly syndrome) at 18.5 weeks of gestation in a fetus whose parents had had a previous affected child. The karyotype of that child was 46,XX,inv(9)(p11q21); the karyotype of the phenotypically normal father and of the fetus was 46,XY,inv(9)(p11q21). Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs. On autopsy at 19 weeks, findings included renal agenesis, cryptophthalmos with multiple abnormalities of the eyes and ocular adnexa, laryngeal atresia, pulmonary hyperplasia with accelerated maturation, absence of the Eustachian tube with connective tissue occupying the tympanic cavity and bone occluding the external acoustic meatus, and soft-tissue webbing between the digits. This is the second reported instance of prenatal diagnosis of Fraser syndrome in the second trimester. The histopathologic findings in Fraser syndrome at this gestational age, in particular the eye and ear, have not been described previously.

Abnormalities, Multiple↗

PubMed2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of the sperm flagella (MMAF) frequently co-occur in male infertility. However, the genetic basis of this syndromic presentation remains unclear. Using whole-exome sequencing, we identified a novel homozygous ARL2BP splice-site mutation (c.294-2A>G) in a 23-year-old infertile male from a consanguineous family who presented with syndromic PCD and MMAF. This variant causes aberrant pre-mRNA splicing and triggers nonsense-mediated mRNA decay, resulting in the complete absence of ARL2BP protein expression. Transmission electron microscopy revealed extensive disorganization of flagellar axonemes with consistent central pair (CP) microtubule depletion and disorganization of peripheral doublets. Immunofluorescence confirmed a severe deficiency of the CP protein SPAG6 in the sperm flagella. Notably, the patient presented without retinal symptoms. Given that ARL2BP-related retinitis pigmentosa generally emerges during the third decade, long-term ophthalmological follow-up is essential to detect delayed-onset retinal degeneration. In conclusion, these findings confirm ARL2BP as a causative gene for both PCD and MMAF, expanding the genotypic and phenotypic spectrum of ciliopathies.

Humans↗

PubMed1982

Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).

Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now been described in 24 individuals, with a predominance of females (21:3). We report an affected woman who gave birth to a male infant with omphalocele, hypoplastic kidneys, and the skeletal changes of this disorder; he died soon after birth. Histologic studies of the calvaria and long bones showed normal maturational sequences, but suggest that remodeling was not normal. This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. We suggest that the gene for the MNS may also cause a syndrome of multiple abnormalities that can be lethal and that this more severe phenotype in males may account for the altered sex ratio among reported cases. Both X-linked dominant and autosomal-dominant sex-limited inheritance are feasible interpretations of the existing information.

Abnormalities, Multiple↗

PubMed1983

Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left-heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets. Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so-called Smith-Lemli-Opitz (RSH) Syndrome.

Abnormalities, Multiple↗

PubMed1979

Partial trisomy 11q as the result of sporadic translocation.

Partial trisomy 11q due to a sporadic translocation was found in a mentally retarded girl with multiple abnormalities. The proportion of sporadic translocations involved in the total incidence of partial trisomies is discussed.

Abnormalities, Multiple↗

PubMed1977

Dispermic origin of a 69,XXY triploid.

Triploidy, 69XXY, was found in a newborn with multiple abnormalities. Conception had occurred shortly after the mother ceased taking an oral contraceptive. The infant carried a pair of 21s with giant satellites; of the parents, only the father carried a giant-satellited 21. This, together with the XXY constitution, suggested a dispermic origin of the triploidy.

Abnormalities, Multiple↗

PubMed1979

Sprengel's deformity. Radiology of the pathologic deformation.

A unique specimen of unilateral Sprengel's deformity, and contralateral normal pectoral girdle, were studied morphologically and roentgenographically. The cervical spine exhibited multiple abnormalities involving both the vertebral centra as well as the posterior elements (Klippel-Feil abnormality). A small spina bifida involving C5 and C6 was present. Abnormalities of the spinous processes included an articulation with a well-formed omovertebral bone that also articulated with the vertebral (infraspinatus) margin of the scapula. Secondary (presumed epiphyseal) ossification was present in the omovertebral bone at the distal end. The scapula was deformed, especially in the supraspinatus portion. The clavicle was shorter and had a different contour.

Abnormalities, Multiple↗

PubMed1987

Cervical meningocele and associated spinal anomalies.

Simple meningoceles are infrequent forms of dysraphism and are often benign. They have been associated with other spinal anomalies. The uncommon cervical meningocele may have a higher propensity to be associated with other spinal anomalies. Four patients with cervical meningocele are presented with radiographic evaluation and clinical course. Multiple abnormalities were documented radiographically and operatively, including hydrocephalus, Chiari malformation, hydromyelia, lipomeningomyelocele, tethered cord, thickened filum terminale, diastematomyelia, Klippel-Feil syndrome, and thoracic hemivertebrae. Prior to the development of any late neurological abnormality from associated spinal anomalies, magnetic resonance imaging is recommended early in a child born with a simple meningocele.

Abnormalities, Multiple↗

PubMed1977

On the nature of syndrome delineation.

Perhaps half of all patients with multiple abnormalities have known, recognized syndromes. The other half represent unknown entities that need to be further delineated. The significance of syndrome delineation cannot be overestimated. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its risk of recurrence become known, allowing for better patient care and family counseling. The process of syndrome delineation is discussed in terms of unknown genesis syndromes of the previsionally-unique and recurrent-pattern types, and known-genesis syndromes of the pedigree, chromosomal, biochemical-defect, and environmentally-induced types. Several special syndrome categories are defined, including the chance syndrome, variant additive syndrome, association syndrome, exceptional chromosomal syndrome, and exceptional monogenic syndrome. Finally, a population definition of a syndrome is developed.

Abnormalities, Multiple↗

PubMed1992

Extended cytogenetic follow-up of patients with myelodysplastic syndrome (MDS).

The prognostic significance of clonal karyotype status in myelodysplastic syndrome (MDS) is assessed after an extended follow-up period of 5 years. There are three karyotype, single abnormalities or multiple abnormalities at the time of referral. However, there is no correlation between the size of the abnormal clone and prognosis. Karyotype status has independent prognostic significance in 'high risk' MDS so that patients with a refractory anaemia with excess of blasts (RAEB)/RAEB in transformation (RAEB-t) and a normal karyotype survive significantly longer than those with an abnormal karyotype (P < 0.001) and do not differ significantly from patients with refractory anaemia (RA). Significant differences in survival according to karyotype status are also seen in patients with chronic myelomonocytic leukaemia (P < 0.001) but not in those with primary acquired sideroblastic anaemia and RA. Among patients studied sequentially, those who retained a normal karyotype survived significantly longer than those who developed an abnormality on follow-up (P < 0.001). The risk of leukaemic transformation was also increased in patients who presented with or subsequently developed a clonal karyotype abnormality compared with those who remained normal (P < 0.05).

Aged↗

PubMed1992

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by photosensitivity, a high incidence of cancer in sun-exposed portions of the skin and a reduced capacity to repair the u.v.-induced DNA damage. One of the XP mutations (XP-D) has also been identified in patients affected by trichothiodystrophy (TTD), a rare autosomal recessive disease characterized by brittle hair, mental and physical retardation, peculiar face and ichthyosis. However, in these patients there is no evidence of increased skin tumour incidence. Since an impairment of cell-mediated immunity has been proposed as a co-factor in the cancer proneness of XP patients, we investigated the involvement of immune defect(s) in five XP patients, five TTD patients, their parents, and 24 TTD relatives. We evaluated the phenotype of circulating lymphocytes, natural killer (NK) cell lytic activity, target cell binding of NK cells at single cell level and the effect of interferons (IFN) alpha and beta on NK cell activity. The relative proportion of CD3+ and CD4+ circulating lymphocytes was reduced in XP but not in TTD patients. NK cell lytic activity was decreased in XP patients and their mothers, but their fathers showed normal lytic activity. NK activity varied among TTD families: four out of five patients and their relatives presented low NK cell activity, and one family was normal. In TTD family members, NK activity increased after incubation with IFN-alpha or IFN-beta, but never reached normal values. In contrast, in XP patients and their mothers, the defect was almost completely corrected after in vitro incubation with IFN-alpha or IFN-beta. Our study indicates impaired NK lytic activity in the majority of TTD and XP patients and that this defect is present also in members of their families. In addition, XP patients present a low number of circulating T cells. These multiple abnormalities, together with DNA repair defects, could be related to the increased cancer risk in XP patients.

Abnormalities, Multiple↗

PubMed1981

Phenotypic variation in Meckel syndrome.

Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal sings of Meckel syndrome - encephalocoele and polycystic kidneys, lacking polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57% of cases have all the three major abnormalities, 16% have the two found in this family, and the remainder exhibit other variations. In 9 of 17 families where more than one sib is affected, manifestation between sibs is the same, but in the only other two families with as many as four affected sibs, there is variation in expression between sibs.

Abnormalities, Multiple↗

PubMed1976

Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.

Abnormalities, Multiple↗

PubMed1978

Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.

Raised alpha-fetoprotein concentrations were found at 29 and 30 weeks' gestation in the amniotic fluid and maternal serum of a woman who presented in her seventh pregnancy with apparent polyhydramnios. The fetus had multiple abnormalities including gross distension of the bladder resulting from absence of the urethra, intestinal artresia, and a congenital heart defect.

Abnormalities, Multiple↗