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Biomedical subjects

H D Rott

Publications and source records attributed to H D Rott.

At least 37 records · Page 2Linked to original sources
PubMed1995

Specific acromesomelia with facial and renal anomalies: a new syndrome.

A facio-renal-acromesomelic syndrome is reported in a 15-year-old boy with normal intelligence. The main dysmorphic features are a large head and congenital ptosis with telecanthus. There is unilateral ureteral stenosis with hydronephrosis. Bone abnormalities consist of ulnar dysplasia and tibial hypoplasia, multiple synostoses of carpal and tarsal bones, proximal synostoses of metatarsals, and of brachydactyly. A similar case has not been published.

Abnormalities, Multiple↗
PubMed1994

Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint.

Linear epidermal nevi are hamartomas that originate in embryonic ectoderm. For epidermal nevi associated with involvement of other systems, such as the skeleton or central nervous system, the term epidermal nevus syndrome has been introduced. Chromosomal aberrations have been suggested but not proven as an underlying cause. We performed cytogenetic studies of skin cells from two unrelated men who had a verruciform epidermal nevus. Variegated translocation mosaicism with an identical breakpoint localized at the long arm of chromosome 1 was present in both patients. Normal skin and blood lymphocytes showed normal karyotypes.

Adult↗
PubMed1993

Hydantoin syndrome with holoprosencephaly: a possible rare teratogenic effect.

We report on a newborn girl with lobar holoprosencephaly and clinical signs of hydantoin syndrome. During pregnancy the mother was treated with diphenylhydantoin and primidon for psychomotor and petit mal seizures. The possible relationship between hydantoin syndrome, holoprosencephaly, and maternal intake of anticonvulsants during pregnancy is discussed.

Abnormalities, Drug-Induced↗
PubMed1992

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).

In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a mentally retarded dysmorphic child and an idic(15) in a child with Fallot tetralogy was confirmed. In a child with r(21), a supernumerary marker was shown to be derived from no. 21, while in the mother an additional marker idic(22) was noted.

Amniocentesis↗
PubMed1992

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site. The EcoRI fragment also includes an HTF island that is hypermethylated in fragile-X patients showing absence of FMR-1 mRNA. In this paper, we present further evidence that the FMR-1 gene is involved in the clinical manifestation of the fragile-X syndrome and also in the expression of the cellular phenotype. A deletion including the HTF island and exons of the FMR-1 gene was detected in a fragile X-negative mentally retarded male who presented the clinical phenotype of the fragile-X syndrome. The deletion involves less than 250 kb of genomic DNA, including DXS548 and at least five exons of the FMR-1 gene. These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome. In the fragile-X syndrome, there are pathogenetic mechanisms other than amplification of the CGG repeat that do have the same phenotypic consequences.

Base Sequence↗
PubMed1991

A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.

Following the observation of a patient suffering from tuberous sclerosis (TSC) with a de novo reciprocal translocation t(3;12) (p26.3;q23.3), we have undertaken a linkage study in 15 TSC families using polymorphic DNA markers neighbouring the chromosome breakpoints. Significant lod scores have been obtained for markers D12S7 (Zmax = 2.34, theta = 0.14) and PAH (phenylalanine hydroxylase (Zmax = 4.34, theta = 0.0). In multipoint linkage analysis, the peak lod score was 4.56 at the PAH gene locus. These data suggest the existence of a third gene locus for TSC (TSC3) on chromosome 12q22-24.1. The regions that have been found to be linked to TSC in different families map to the positions of three enzymes, phenylalanine hydroxylase (12q22-24), tyrosinase (11q14-22), and dopamine-beta-hydroxylase (9q34), all of which are involved in the conversion of phenylalanine to catecholamine neurotransmitters or melanin. Disorders of these biochemical pathways might be involved in the pathogenesis of TSC.

Chromosomes, Human, Pair 11↗
PubMed1991

Keratotorus in Norrie disease.

We report on a 46-year old white male with Norrie disease. In the right eye he had a keratotorus with non vascularized corneal scars and mature cataract. After penetrating keratoplasty a pseudoglioma with irreversible total retinal detachment was found. The left eye had phthisis bulbi with corneal pannus and band keratopathy, shallow anterior chamber, posterior synechia and mature cataract.

Blindness↗
PubMed1991

Tuberous sclerosis in two sibs of normal parents.

We report on a family with two sibs suffering from tuberous sclerosis. The parents were normal in all clinical tests including Wood's light examination of the skin, ophthalmoscopy, X-ray computerized tomography of brain, liver, and kidneys, cardiac echography and MR imaging of the brain. The most likely explanation is a germinal cell mosaic in one of the parents. A recurrence risk of 20 to 37% seems appropriate. The implications for risk assessment of sporadic cases are emphasized.

Brain↗
PubMed1991

Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).

We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3;12)(p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non-random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account.

Autistic Disorder↗
PubMed1990

X-linked ocular albinism. Characteristic pattern of affection in female carriers.

The authors report on a family with X-linked ocular albinism. Examined were one of three affected males and eight females. Six women were carriers and showed iris retroillumination and typical abnormalities of the fundus. The patchy or striated hypopigmentation of the retinal pigment epithelium is thought to be due to random inactivation of the paternal or maternal X-chromosome respectively. The pattern of affection however represents a nonrandom embryological developmental pattern of the retinal pigment epithelium.

Adult↗
PubMed1990

Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism.

The authors report on a ten-year-old boy with hypomelanosis of Ito. He suffered from epileptic seizures and exhibited typical generalized partial skin hypomelanosis in whorl-like and striated pattern following Blaschko's lines. The fundi showed patchy, mottled hypopigmentations becoming increasingly striated in the periphery with a general orientation to the optic nerve head. This pattern of affection reminds of the retinal findings in carrier women for X-linked ocular albinism. Magnetic resonance imaging revealed multiple small areas of increased relaxation time scattered in the white matter of the brain, which are interpreted as porencephalic cysts. These clinical findings suggest somatic cell mosaicism even though the cytogenetic study was not conclusive.

Brain Diseases↗
PubMed1990

An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.

A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy that the first metacarpal bone is not abnormal. This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981).

Adolescent↗
PubMed1988

[Diagnostic ultrasound: biological effects and potential risks].

All competent scientific groups and institutions involved in ultrasound bioeffect research have accepted the safety of diagnostic ultrasound. If, however, bioeffects have been produced by the use of higher intensities, such effects had been caused by heat production or cavitation. Nevertheless, one has to face the fact that individuals have been successfully doubting this assumption of safety. They succeeded in formulating hypotheses which cannot be disproved at all or at short notice. This holds good especially for any possible unspecified late effects. Such effects, however, can never be excluded in any technical innovation. These remarks refer to all diagnostic ultrasound applications except Doppler blood flow measurements, since for the latter techniques no sufficient knowledge is yet available on possible bioeffects.

Humans↗