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| Blepharophimosis, ptosis, epicanthus inversus |
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| Written by chevypro101 | |
| 05 August 2011 | |
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in 1841, it was Vignes2 in 1889 who firstassociated blepharophimosis with ptosis and epicanthusinversus. In 1921, Dimitry3 reported a family inwhich there were 21 affected subjects in five generations. He described them as having ptosis alone and did not specify any other features,although photographs in the report show that they probably had the full syndrome. Dimitry's pedigree was updated by Owens et a/ in 1960. The syndrome appeared in both sexes and was transmitted as a Mendelian dominant. Information obtained from the following website: http://jmg.bmj.com/content/25/1/47.long
Journal of Medical Genetics 1988. 25. 47-51 Blepharophimosis, ptosis, epicanthus inversussyndrome (BPES syndrome) CHRISTINE OLEY AND MICHAEL BARAITSERFrom the Clinical Genetics Unit, The Hospitals for Sick Children, Great Ormond Street, London WC]N3JH Although von Ammon' first used the term blepharphimosisin 1841, it was Vignes2 in 1889 who firstassociated blepharophimosis with ptosis and epicanthusinversus. In 1921, Dimitry3 reported a family inwhich there were 21 affected subjects in five generations. He described them as having ptosis alone and did not specify any other features,although photographs in the report show that they probably had the full syndrome. Dimitry's pedigree was updated by Owens et a/ in 1960. The syndrome appeared in both sexes and was transmitted as a Mendelian dominant. In 1935, Usher5 reviewed the reported cases. By then, 26 pedigrees had been published with a total of 175 affected persons with transmission mainlythrough affected males. There was no consanguinity in any pedigree. In three pedigrees, parents who obviously carried the gene were unaffected.Well over 150 families have now been reportedand there is no doubt about the autosomal dominantpattern of inheritance. However, like Usher,5 several authors have noted that transmission is mainly through affected males and less commonly through affected females.4 6 Reports by Moraine et al7 and Townes and Muechler8 have described families where all affected females were eitherinfertile with primary or secondary amenorrhoea or had menstrual irregularity. Zlotogora et a/9 described one family and analysed 38 familiesreported previously. They proposed the existence of two types: type I, the more common type, in whichthe syndrome is transmitted by males only andaffected females are infertile, and type II, which is transmitted by both affected females and males.There is male to male transmission in both types and both are inherited as an autosomal dominant trait. They found complete penetrance in type I and slightly reduced penetrance in type II. Received for publication I June 1987. Accepted for publication 6 June 1987. 47 Clinical features (figs 1 to 6) B LEPHARO PHIM OS IS The palpebral fissure is reduced in horizontaldimension. The normal horizontal fissure length in adults is 25 to 30 mm whereas in this syndrome it isusually 20 to 22 mm."' PTOSIS Blepharoptosis literally means a falling of the lids. The palpebral fissure is abnormally small in the FIG 1 Typical posture assumed because ofptosis. Notenarrowing ofpalpebralfissures and cup shaped right ear. Downloaded from jmg.bmj.com on August 5, 2011 - Published by group.bmj.com 48 Christine Oley and Michael Baraitser FIG 2 Same patient as in fig 1.Note telecanthus, smooth skin over eyelids, andflat nasal bridge. vertical dimension. It is caused by the absence or impairment of the function of the levator palpebraesuperioris muscle and is usually bilateral and symmetrical. To compensate for the ptosis, affected /6 FIG 3 Affected child, just sitting at 12 months. Note arched eyebrows. persons assume a characteristic posture with the head tilted backwards, the brow furrowed, and thechin arched upward (figs 1 and 3). EPICANTHUS INVERSUS Unlike other types of epicanthus, epicanthus inversus improves only slightly with age. It is characterised by a small skin fold which arises from the lowerlid and runs inwards and upwards (fig 2). Associated with this is an increased length of the medial canthal ligament and a lack of the normal depression seen at the internal canthus.The effect of blepharophimosis, ptosis, and epi- canthus inversus is to reduce the size of the palpebral fissure by reducing it in both height andwidth. ASSOCIATED OCULAR FEATURES Telecanthus is seen in the majority of patients. Thisrefers to a lateral displacement of the inner canthi leading to a widening of the intercanthal distance. The interpupillary distance remains unchanged. The eyelids are often covered by smooth skin without eyelid folds and deficient amounts of skin in both eyelids may be found at surgery" (fig 2). The eyebrows are increased in their vertical height and they are drawn up into a pronounced convex arch. This is attributed to the stretching ofhair bearing skin as a consequence of the constant contraction of the frontalis muscle (fig 3). Abnormalitiesof the eyelid margin are frequently seen. The margin of the upper lid has a slight S shaped curve and the lower lid usually has an abnormal concavity downwards, particularly laterally where Downloaded from jmg.bmj.com on August 5, 2011 - Published by group.bmj.com Syndrome of the month FIG 4 Same patient as in fig 3 withunaffected sibs, who now attends normal school. ,#1- an ectropion might occur. Frequently, there is lateral displacement of the upper and lower lacrimalpuncta, even more than would be expected from thelateral displacement of the inner canthi. Occasional ocular findings include microphthal- A. FI ain gd w n afyar eoesrey mos, anophthalmos, microcornea, hypermetropia, divergent strabismus, nystagmus, amblyopia, and trichiasis. Several authors have commented on the apparent increased frequency of brown eyes in affected persons.'2 riM '** FIG 6 Same patient as in fig 5, after three operations, the last one at 18 years. She has secondary amenorrhoea. 49 Downloaded from jmg.bmj.com on August 5, 2011 - Published by group.bmj.com Christine Oley and Michael Baraitser NON-OCULAR FEATURES A flat, broad nasal bridge occurs frequently (fig 2).There is one report of a bony deficiency with absent supraorbital ridges and an absent nasoglabellar angle.1 Higih arched palate has been reported in a few cases.4 3 Protruding, simple, or cup shaped earshave been reported occasionally'4 (fig 1). Smith'5 has suggested some may have generalised hypotonia. Cardiac defects have been reported.'6 Intellectualdevelopment is usually normal although mild mental retardation has occasionally been reported. 17 Delay in sitting alone often occurs during the first year of life, mostly because the infant tilts its head in order to see and then falls backwards. Psychological problems secondary to the altered facial appearance do occur. 18 Many Caucasian children are teased because they look Oriental and some are diagnosed initially as having Down's syndrome. INFERTILITY There is a high incidence of menstrual irregularity and infertility in females. Although primary hypogonadism has been suggested as a cause of the female infertility,9 it appears to be responsible in only a fewcases, with the cause in most remaining unknown.Townes and Muechler' reported a family where allaffected females had primary ovarian failure. They had a normal female karyotype and normal breastdevelopment, and pubic and axillary hair was scantbut in the normal female distribution. Laparoscopy revealed a small uterus and small atrophic ovaries.There was raised serum testosterone, serum luteinising hormone, and follicle stimulating hormone andafter administration of cyclical oestrogen and progesterone therapy regular withdrawal bleeding occurred. However, Jones and Collin'9 reviewed 37known cases, and of the six females of child bearing age two had normal menstrual periods, three hadscanty irregular periods with no definite cycle, and one had primary amenorrhoea. One of the women with normal periods had had a child and one woman with irregular periods had had three miscarriages. Primary hypogonadism with raised gonadotrophins and low oestrogen and progesterone was evident in only one but four others had abnormal hormonefunction which was difficult to interpret. It has also been suggested that the infertility is an autosomal dominant sex limited trait transmitted by males and affecting females only, similar to the typeof inheritance described in the Stein-Leventhal syndrome. 2) Differential diagnosisThe differential diagnosis includes those conditionsin which ptosis or blepharophimosis is a majorfeature. Therefore, congenital simple ptosis,21 ptosis with external ophthalmoplegia,22 Noonan syndrome,23 Marden-Walker syndrome ,24 Schwartz-Jampel syndrome,25 Dubowitz syndrome,26 and Smith-Lemli-Opitz syndrome27 must all be considered.Inheritance Autosomal dominant transmission is well established. Differentiation of the syndrome into two types by Zlotogora et at) shows that penetrance is 100% in type I where there is transmission by males only and affected females are infertile. In type II,penetrance is 96*5% and transmission occurs through both sexes. Zlotogora et at) also found there was a deviation from the expected sex ratio amongchildren of affected fathers in both types. In type I, most of the children were males and most male offspring were affected, whereas in type II, most ofthe children were females and most of the female offspring were affected.Although distinction between the two types isimportant for counselling females about the likelihood of being fertile, if the rate of new mutations is as high as 50%, as suggested by Jones and Collin,19 then counselling of isolated cases is extremelydifficult. Pathogenesis In 1930 Waardenburg,28 after studying the embryology of human fetuses, proposed that the oculardefect in this syndrome occurred during the thirdmonth of intrauterine life. This would coincide with the critical period in the development of the ovaryand the initial formation of the uterus through Mullerian duct fusion. Management/treatment Many children require early surgery because of the visual difficulties associated with the ptosis and blepharophimosis. As distinct from other conditionsassociated with ptosis, there is very little improvement in the appearance and function with age. Surgery is far more difficult than for isolatedptosis because of the associated epicanthus inversus, the variable degree of blepharophimosis, and the frequent finding of deficient eyelid skin. Early surgery is recommended to minimise being teased at school, although the final results of surgical correction may be better in older children and in adults.29 Surgery is started between the agesof three and five years, although severe ptosis may require earlier correction. so Downloaded from jmg.bmj.com on August 5, 2011 - Published by group.bmj.com Syndrome of the monthMany surgical techniques have been described but most seem to involve initial canthal surgery to improve the blepharophimosis before ptosis correction is possible. However, combined surgery hasbeen used in children with less severe manifestations.3t We are grateful to Mrs Melanie Barham for secretarial assistance and to Mr Roland Brooks for photographicwork. We would also like to thank Mr D N Matthews, Consultant Plastic Surgeon for fig 5. References von Ammon FA. Klinische darstellung der krankheiten und bildungsfehler des menschlichen auges, der augenglides und derthranewerkzeuge. Berlin: G Reimers, 1841. 2 Vignes A. Epicanthus hereditaire. Rev Gen Ophtalmol (Paris) 1889;8:438-9. 3 Dimitry TJ. Hereditary ptosis. Am J Ophthalmol 1921;4:655-8. 4 Owens N, Hadley R, Kloepfer HW. Hereditary blepharophimosis,ptosis and epicanthus inversus. J Int Coll Surg 1960;33: 558-74. 5 Usher CH. Bowman's lecture on a few hereditary eye affections.Trans Ophthalmol Soc UK 1935;LV: 194-206. 6 Edmund J. Blepharophimosis congenita. Acta Genet Statis Med 1957;7:279-84. 7 Moraine C, Titeca C, Delplace MP, Grenier B, Lenoel Y, Ribadeau-Dumas JL. Blepharophimosis familial et sterilitcfeminine. J Genet Hum 1976;24(suppl):125-32. 8 Townes PL, Muechler EK. Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhoea. Arch Ophthalmol1979;97:1664-6. 9 Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosisand epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983;35:1020-7. Johnson CC. Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis. Arch Ophthalmol1964;71:510-6. Lewis S, Arons M, Lynch J, Blocker T. The congenital eyelid syndrome. Plast Reconstr Surg 1967;39:271-7. 12 Mcllroy JH. Hereditary ptosis with epicanthus: a case with pedigree extending over 4 generations. Proc R Soc Med1930:23:285-8. 3 Pueschel SM, Barsel-Bowers G. A dominantly inherited congenitalanomaly syndrome with blepharophimosis. J Pediawr 1979;95:1010-2. '4 Kohn R. Romano PE. Blepharoptosis, blepharophimosis. epicanthus inversus and telecanthus-a syndrome with no name. Am J Ophthalmol 1971;72:625-32. 15 Smith DW. Recognisable patterns of hunanti ;nalfor,namtions. 3rded. Philadelphia: Saunders. 1982:170-1. 16 Beauchamp GR. Blepharophimosis and cardiopathy. J Paediatr Ophthalmol Strabismus 1980;17:227-8. 7 Sacrez R, Francfort J, Juif JG, de Grouchy J. Le blepharophimosis complique familial. Etude des membres de la famille Ble. Ann Pediatr (Paris) 1963;10:493-501. 18 O'Connor G, McGregor M. Associated congenital abnormalities of the eyelids and appendages. Plast Reconistr Surg1953 ;1 1:348-52. 19 Jones CA, Collin JRO. Blepharophimosis and its association with female infertility. Br J Ophthalmol 1984;68:533-4. 21) Givens JR, Wiser WL, Coleman SA, Wilroy RS, Anderson RN. Fish SA. Familial ovarian hyperthecosis: a study of two families.Am J Obst Gvnecol 1971;110:959-72. 21 Spaeth EB. A classification for congenital ptosis. Atn J Ophthalmol 1943;26:1326-7. 22 Rank BK. The genetic approach to hereditary congenital ptosis. Aust NZ J Surg 1959:;28:274-9. 23 Allanson JE. Noonan syndrome. J Med Geniet 1987:24:9-13. 24 King CR, Magenis E. The Marden-Walker syndrome. J MedGenet 1978;15:366-9. 25 Schwartz 0, Jampel RS. Congenital blepharophimosis associated with a unique gencralised myopathy. Arch Ophthaltnol1962;68:52-7. 26 Dubowitz V. Familial low birth weight dwarfism with an unusualfacies and a skin eruption. J Med Genet 1965;2:12-17. 27 Smith DW, Lemli L, Opitz JM. A newly recognised syndrome ofmultiple congenital anomalies. J Pediatr 1964;64:21(t-7. 2X Waardenburg PJ. Die Zuruchfuhrung ciner reike erhlichangeborener familiarer augenmissbildungen auf cine fixation normaler fetaler verhaltnisse. Arch Ophthalmnol 1930);124:221-9. 29 Johnson CC. Operations for epicanthus and blepharophimosis.Am J Ophthalmol 1956;41:71-9. 31' Elliot D, Wallace AF. Ptosis with blepharophimosis and epicanthus inversus. Br J Plast Surg 1986;39:244-8. Correspondence and requests for reprints to Dr Michael Baraitser, Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street,London WC1N 1EH. 51 Downloaded from jmg.bmj.com on August 5, 2011 - Published by group.bmj.com doi: 10.1136/jmg.25.1.47 J Med Genet 1988 25: 47-51C Oley and M Baraitser syndrome (BPES syndrome) epicanthus inversus Blepharophimosis, ptosis, http://jmg.bmj.com/content/25/1/47.citation at: Updated information and services can be found These include: References http://jmg.bmj.com/content/25/1/47.citation#related-urls Article cited in: service Email alerting corner of the online article. this article. Sign up in the box at the top right Receive free email alerts when new articles cite Notes http://group.bmj.com/group/rights-licensing/permissions To request permissions go to: http://journals.bmj.com/cgi/reprintform To order reprints go to: http://group.bmj.com/subscribe/ |
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