Giemsa banding of chromosome 1gh+ and linkage analysis.
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A four-generation transmission of 1qh+ chromosome was ascertained by routine chromosome analysis of a mildly dysmorphic and retarded 61/2-year-old female. Concordance between synophrys and the 1qh+ marker was the only consistent phenotypic relationship. The variant chromosome did not appear uncoiled, and Giemsa centromeric staining (C-bands) revealed an increased width of the heterochromatin commensurate with the increased length of the long arm. Giemsa banding of the entire chromosome (G-bands) revealed two heterochromatin bands, identical in appearance, in the centromeric region with the remainder of the chromosome showing normal banding. The distribution of Duffy blood groups in the pedigree was consistent with the locus being on chromosome No. 1. (+info)
A case of alopecia universalis without the involvement of scalp hairs.
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A case of alopecia universalis in a 45-year-old male was reported. The hair loss initiated on the eyebrows and progressed to the whole body, but the scalp hairs were well preserved. Histopathologic features of eyebrows were compatible findings with alopecia areata. This is a unique case of alopecia universalis without any involvement of scalp hairs. (+info)
Mersilene mesh brow suspension: efficiency and complications.
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The use of the Mersilene mesh sling brow suspension procedure for the correction of severe blepharoptosis in 76 lids of 54 patients is presented. After a median follow up of 20 months functional and cosmetic results and complications were evaluated. The method is considered to be an alternative for those cases not primarily suitable for autogenous fascia lata brow suspension. (+info)
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
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We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13. (+info)
Upper eyelid and eyebrow dimensions in Malays.
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The upper eyelid crease height pretarsal skin and eyebrow height were studied in 305 Malay subjects (146 males and 159 females) varying in age from 2-80 years, who were randomly selected from the residents of Kota Bharu, Kelantan. In females, from the age of 11 years the mean pretarsal skin height increased progressively with age. In males, however, it decreased with age up to 60 years. In both sexes, subjects more than 60 years old showed highest values for pretarsal skin height. The mean eyelid crease height increased progressively with age from 11 years onwards in males but not in females. The mean eyebrow height increased with age in females but not in males. Eyebrow and eyelid measurements seem to show a definite racial variation. Besides establishing normal values for eyelid and eyebrow measurements in Malays, our findings indicate that age and sex should be taken into consideration to achieve satisfactory results in cosmetic eyelid surgery in Malays. (+info)
Botulinum toxin A treatment of overactive corrugator supercilii in thyroid eye disease.
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BACKGROUND/AIM: Patients with thyroid eye disease with upper eyelid retraction often develop overaction of the accessory muscles of eyelid closure, the glabellar muscles corrugator supercilii and procerus. The resultant glabellar furrowing (frown lines) contributes to the typical thyroid facies. The aim of this study was to evaluate the use of botulinum toxin A reversible chemodenervation of the glabellar muscles as adjunctive treatment in the rehabilitation of patients with thyroid eye disease. METHODS: 14 patients (13 females) ages 39-76 years (mean 52) with inactive thyroid eye disease and associated medial eyebrow ptosis and prominent glabellar frown lines were recruited. All patients had a history of upper eyelid retraction. Each patient was treated with a single botulinum toxin injection (Dysport 0.2 ml, 40 units) into each corrugator supercilii and sometimes procerus muscles as an outpatient procedure. The effectiveness and acceptability of the treatment was assessed clinically and from a patient questionnaire. RESULTS: The injections were tolerated by 13/14 (93%) patients. There was resultant flattening of the glabellar region and improvement of medial eyebrow contour in all patients, with onset of paralysis within 1 week. All patients reported a subjective improvement in appearance. Side effects included one patient (7%) with reversible partial ptosis. The beneficial effect lasted 4-6 months, with a gradual return of function. Repeat treatment was indicated where there was persistent upper eyelid retraction and protractor overaction. CONCLUSION: Botulinum toxin A chemodenervation of the glabellar muscles in these patients was effective and acceptable. Chemodenervation should be considered in the rehabilitation of patients with thyroid eye disease where there is upper eyelid retraction and overacting protractors resulting in a thyroid frown. Once the eyelid retraction has been successfully treated by surgery, the need for further glabella muscle chemodenervation is considerably reduced. (+info)