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At least 883 records · Page 49Linked to original sources
PubMed1977

Meiotic consequences of an intrachromosomal insertion of chromosome No 1: a family pedigree.

In three generations of the proband's patrilineal relatives, 14 subjects were found to be carriers of a "shift" insertional chromosome No. 1 (46XX or XY, ins(1)(p32q25q31)). The proband and three female relatives, who were mild to moderate mental retardates with minor congenital anomalies, were trisomic for the insertional segment, (1)q25q31. Another subject, who was a markedly immature female abortus with congenital abnormalities, was found to be monosomic for this same chromosomal segment. The cytogenetic evidence suggests that each of these unbalanced recombinant progeny was the result of a single crossing over in the noninsertional loop of a paternal pachytene bivalent of the balanced insertional chromosome No. 1.

Abnormalities, Multiple↗
PubMed1979

Oculodento-osseous dysplasia: heterogeneity or variable expression?

Oculodento-osseous dysplasia (ODOD) has been recognised in three South African patients from two kindreds of Dutch descent. Their ocular, nasal, dental and digital stigmata resembled those of previously reported cases, but their cranial hyperostosis and mandibular overgrowth were of much greater degree. In addition, the two survivors had serious neurological complications consequent upon spinal cord compression at the base of the skull and calcification of the basal ganglia. Two of the patients were the product of marriages between a pair of brothers and a pair of sisters, who were themselves clinically normal. This situation is best explained by autosomal recessive inheritance. As ODOD is usually transmitted as an autosomal dominant, and in view of the unusual severity of the manifestations in our patients, it is possible that the condition is heterogeneous and that they had a distinct autosomal recessive form of the disorder. The presence of minimal stigmata in the mother and two prior generations of our third patient could be equally well interpreted as representing great variation in phenotypic expression of a single dominant gene or manifestation in a heterozygote for a recessive gene.

Abnormalities, Multiple↗
PubMed1989

Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome.

An Arab girl with macrosomia, severe microphthalmia and early infant death is reported. Four other sibs were similarly affected; three of them had median cleft palate. All five sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. Parental consanguinity and affected sibs of both sexes strongly suggest autosomal recessive inheritance in this apparently new syndrome.

Cleft Palate↗
PubMed1997

Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.

We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3).

Abnormalities, Multiple↗
PubMed1997

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.

The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and microphthalmia/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations. Most of the patients suffer from psychomotor retardation and seizures. To date, 23 patients in total have been reported. We report on three additional cases which illustrate the broad clinical spectrum of this disorder. In one case, the differentiation between OCC syndrome and encephalocraniocutaneous lipomatosis was difficult. A brief review of the clinical features of OCC syndrome is given. Possible aetiological hypotheses are discussed, namely survival of a lethal mutation by mosaicism, an autosomal dominant mutation and external causal factors. Disruption of the anterior neuroectodermal plate seems to be the most probable pathogenic mechanism.

Abnormalities, Multiple↗
PubMed1975

Retinal dysplasia--A report of two surgical cases.

Two surgical cases of retinal dysplasia are reported. The one is unlateral (left-sided) with microphthalmus and the other bilateral. Chromosome test in the latter case showed no abnormality. In both cases the left eye was enucleated under the clinical diagnosis of retinoblastoma. There was a mass of loose connective tissue behind the lens which was covered by a completely detached retina. Histological examination revealed the presence of branching tubes of primitive retinal structure and large rosettes. The use of the term retinal dysplasia in distinction from Reese's syndrome is mentioned and some morphological characteristics of primitive retinal structure are described.

Abnormalities, Multiple↗
PubMed1994

A fifty-year follow-up of ocular defects in congenital rubella: late ocular manifestations.

Fifty patients born with congenital rubella in 1939-1945 were reviewed in 1967. In 1991 this cohort was again studied and their ophthalmic features are presented here. The presence of two new cataracts and one case of possible choroidal neovascularisation are again noted; apart from these three eyes, the group showed no evidence of other delayed manifestations of the congenital rubella syndrome. A review is given of the ocular complications of the congenital rubella syndrome, with particular emphasis on the late complications.

Cataract↗
PubMed1997

Nanophthalmos with longstanding choroidal effusion and serous retinal detachment.

PURPOSE: To report a typical case of nanophthalmos with uveal effusion and local serous retinal detachment followed for 1 year. METHODS: Clinical ocular examinations included vision, refraction, corneal diameter, anterior chamber depth, intraocular pressure, fundoscopy, A/B scan ultrasonography and gonioscopy. RESULTS: Both eyes were hypermetropic with small corneas and shallow anterior chambers. Decreased axial length and thickened sclera were also found. There were peripheral choroidal effusions and local serous retinal detachments as well. The patient declined any surgery that was offered. No significant change in either eye was found after 1 year follow-up. CONCLUSION: This case illustrates that the progress of choroidal effusion and retinal detachment in nanophthalmos may be very slow and even non-progressive for at least 1 year. In these cases sclerectomy and or sclerotomy may be delayed without undue immediate risk to the vision.

Anterior Chamber↗
PubMed2004

Nanophthalmic cataract extraction.

Nanophthalmos is a rare ophthalmic condition with potential sight-threatening complications. In addition, nanophthalmic eyes have a high incidence of intraoperative and postoperative complications, including uveal effusion and retinal detachment. Prophylactic measures to prevent these complications may be used. The case is presented where cataract extraction for a nanophthalmic eye was performed from a posterior approach in combination with a pars plana vitrectomy and gas procedure. To the authors' knowledge, this method of cataract extraction has not been reported before for this condition.

Cataract↗