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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome."
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PMID:Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. 144 82

One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is discussed. The risk of amblyopia is much higher than previously believed (56.4% in our series) and preventive management is discussed.
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PMID:Visual development in the blepharophimosis syndrome. 176 67

Twenty seven frontalis sling procedures were performed with use of autogenous fascia-lata. The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis. This procedure was also performed in a second stage after failure of the useful procedures (levator resection) and after verification that the levator was not exploitable. Sometimes the choice of the procedure is done during the exploration of the eyelid and the levator because there is not always "parallelism" between the levator function and his anatomy. So operative technique must always be performed by a complete anterior palpebral approach, the surgeon can passed the suspensory material from the tarsus to the roof of the orbit, just anterior to the levator aponeurosis, and then out above the eyebrow. The pulley this created by the periosteum of the superior orbital margin prevents vertical traction lines. The skin crease is created with sutures which pick up the tarsus and the lid retractors. If, during the explorations the levator is "exploitable", a super maximum levator resection will be performed at the first stage, the frontalis suspension will be maintained in case of failure of the levator resection.
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PMID:[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications]. 380 95

Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping eyelids (ptosis) and a skin fold arising from the lower eyelid (epicanthus inversus). The chromosomal localization and identity of the BPES locus is not known with certainty. In the current paper, DNA samples from three individuals with a clinical history of BPES, two with interstitial deletions (cases 1 and 2) and one with a balanced translocation (case 3) all involving chromosome 3q23, were analyzed. Allele loss studies using short tandem repeat markers in cases 1 and 2 suggested that the region between the markers D3S1292 and D3S1306 was deleted in both cases. Subsequently, the derived chromosomes resulting from the translocation in case 3 were segregated in interspecific somatic cell hybrids. Analysis of the resultant hybrids showed that D3S1615 was retained in the derived chromosome 3, whereas D3S1316 was retained in the derived chromosome 4. In neither case was the marker present in the reciprocal hybrid. These results indicate that the BPES critical region lies in the D3S1615-D3S1316 interval.
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PMID:Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. 763 59

We report a 6-year-old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome (blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3-->q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3-q23.
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PMID:Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. 827 74

A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.
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PMID:Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? 830 65

Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.
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PMID:Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. 853 74

The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22.
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PMID:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). 868 80

We have evaluated a 3 2/12 year old girl who presented with unilateral blepharophimosis, ptosis of the eyelid, and mental retardation. Additional dysmorphic features include microcephaly, high, narrow forehead, short stubby fingers, and adduction of the right first toe. Cytogenetic analysis showed an unbalanced karyotype consisting of 46,XX,add(7)(q+) that was de novo in origin. Fluorescence in situ hybridisation (FISH) using microdissected library probe pools from chromosomes 1,2,3,7, and 3q26-qter showed that the additional material on 7q was derived from the distal end of the long arm of chromosome 3. Our results indicate that the patient had an unbalanced translocation, 46,XX,der(7)t(3;7)(q26-qter;q+) which resulted in trisomy for distal 3q. All currently reported cases of BPES (blepharophimosis-ptosis-epicanthus inversus syndrome) with associated cytogenetic abnormalities show interstitial deletions or balanced translocations involving 3q22-q23 or 3p25.3. Our patient shares similar features to BPES, except for the unilateral ptosis and absence of epicanthus inversus. It is possible that our patient has a contiguous gene defect including at least one locus for a type of blepharophimosis, further suggesting that multiple loci exist for eyelid development.
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PMID:A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. 932 68

Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which include blepharophimosis, ptosis, and epicanthus inversus. Although it has been suggested that BPES is genetically heterogeneous, a major locus for this condition resides at chromosome 3q23. We have previously mapped a translocation breakpoint associated with BPES to the D3S1316-D3S1615 interval. The markers in this region have subsequently been shown to lie in a different order, with the BPES locus mapping to the 1-cM D3S1576 and D3S1316 interval. In the current investigation, a physical map, consisting of 60 yeast artificial chromosome (YAC) clones and 1 bacterial artificial chromosome, that spans this region has been constructed. Ten expressed sequence tags and the cellular retinol-binding protein I locus have been mapped to the contig. YAC end isolation has led to the creation of novel STSs that have been used to reduce the size of the BPES critical region to a 280-kb interval, which has been cloned in two nonchimeric YACs.
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PMID:Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. 979 97


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