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At least 595 records · Page 33Linked to original sources
PubMed1981

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

Adolescent↗
PubMed1976

The syndrome of partial trisomy 14q.

The case of a 4-month-old male with de novo partial trisomy for chromosome 14 involving the p13 leads to q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.

Abnormalities, Multiple↗
PubMed1976

[On the embryo-fetal alcohol syndrome (author's transl)].

The symptomatology in 24 patients with the embryo-fetal alcohol syndrome in this study corresponded essentially to the clinical picture described by Lemoine et al., and Jones et al., although we were not able to confirm the maxillary hypoplasia and microphthalmia mentioned in the latter. In addition, we observed in 2 girls a virilization of the genitalia which corresponded to female pseudohermaphroditism. Auxologically a nearly regular pattern of the parameters measured was found. The intra-uterine hypotrophy continues after birth. In particular, the head circumference, reflecting the brain growth, remains low. The cerebral damage leads to oligophrenia with a typical pattern of psychic and motor behaviour. Moderate cases tend to improve. Concerning the pathogenesis, the clinical observations in connexion with recent animal experiments permit the following conclusions. Neither the malnutrition nor the liver damage of the mothers are necessary presuppositions. Ethanol itself appears to play the main teratogenetical rôle. Acetaldehyde, which is the primary metabolite of ethanol, is cytotoxic too. However, the liver of the embryo and the fetus, in consequence of its deficient alcohol dehydrogenase content, is not able to metabolize ethanol.

Abnormalities, Drug-Induced↗
PubMed1977

Eye findings in the 13 trisomy syndrome.

The gross and microscopic eye findings in the first historic case of the 13-trisomy syndrome included: severe microphthalmia, coloboma of the ciliary body, cataracts, detached retina, and retinal dysplasia.

Cataract↗
PubMed1996

Oculodental digital dysplasia: neuroimaging in a kindred.

Oculodental digital dysplasia (ODDD) is an uncommon inherited disorder with characteristic facial abnormalities, defects in dentition and syndactyly; previous reports have described neurologic dysfunction. We present neuroimaging features of a mother and daughter with ODDD; despite only the mother having neurologic dysfunction, the MRI findings in both are strikingly similar.

Adolescent↗
PubMed1990

Effects of the microphthalmic white gene on audiogenic seizure susceptibility in mice.

Audiogenic seizure susceptibility was studied in mice segregating for the microphthalmic white gene (Miwh). Previous work by Deol had indicated that mice with either one or two Miwh alleles had severe inner ear defects. A congenic inbred strain provided mice that were identical in genetic background except for single-gene substitutions at the microphthalmia locus. The three genotypes tested were Miwh/Miwh, Miwh/+, and +/+. Mice were exposed to the sound stimulus once for a 1-min period between the ages of 17 and 30 days. Heterozygous Miwh/+ mice had more seizures and were more reactant than either type of homozygote at all ages tested. Responses were low at 17 days of age, peaked sharply by 23 days, and declined markedly by 30 days.

Acoustic Stimulation↗
PubMed1998

Oculo-facio-cardio-dental (OFCD) syndrome.

The association of facial dysmorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. We describe a girl with atrial septal defect, unilateral congenital cataract, unilateral microphthalmia, radiculomegaly of incisor and canine teeth with open apices and other dental crown anomalies. This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.

Abnormalities, Multiple↗
PubMed1997

In utero eyeball development study by magnetic resonance imaging.

The aim of this study was to measure fetal ocular development and to determine a growth curve by means of measurements in utero. Fetal ocular development was recorded by analysis of the results of magnetic resonance imaging (MRI). An anatomic study allowed definition of the best contrasted MRI sequences for calculation of the ocular surface. Biometric analysis of the values of the ocular surface in the neuro-ocular plane in 35 fetuses allowed establishment of a linear model of ocular growth curve in utero. Evaluation of ocular development may allow the detection and confirmation of malformational ocular anomalies such as microphthalmia.

Embryonic and Fetal Development↗
PubMed1993

A DNA insertional mutation results in microphthalmia in transgenic mice.

Transgenic mice were produced by microinjection of a human A gamma-globin gene construct containing site 2 of the locus control region and the A gamma-globin gene with its 3' enhancer sequence. One transgenic mouse line (5'HS2 gamma en91) displayed an altered phenotype when the insertion event of this transgenic line was homozygous. These animals lack the normal pigmentation seen in their hemizygous and non-transgenic littermates, thus appearing white with unpigmented eyes. In addition, their eyes are underdeveloped, consistent with the phenotype associated with mutations at the microphthalmia (mi) locus. Backcrosses of transgenic mice with mi mutant mice result in phenotypes showing a lack of complementation, demonstrating that the site of transgene insertion is allelic with mi. Electron microscopic analysis of hair follicles and culturing of melanocytes from the skin of transgenic animals reveals an absence of cutaneous melanocytes in homozygotes and aberrant growth and morphology of the melanocytes isolated from hemizygous animals. The results presented here summarize the effects of this new allele of the mi locus.

Animals↗
PubMed1990

A case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate.

We present a case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate. Small numbers of cases of Dandy-Walker malformation with occipital meningocele have been described in the literature, but to our knowledge, non of these also had microphthalmia or cleft palate. This association suggests that time of intrauterine origin of Dandy-Walker syndrome was in the sixth or seventh embryonic week. In the diagnosis, both CT cisternography and direct neurosonography over the occipital meningocele was useful for the demonstration of a posterior fossa cyst which communicated with the fourth ventricle and the occipital meningocele.

Abnormalities, Multiple↗