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Correspondence J Med Genet: first published as 10.1136/jmg.20.2.152 on 1 April 1983. Downloaded from Correspondence Journal ofMedical Genetics, 1983, 20, 152-157 Familial Poland anomaly parts ofthe right pectoralis major muscle, hypoplasia of the right nipple, and absence of hair in the right Sir, axilla. He also had scoliosis, pectus excavatum, and We were interested to read Dr David's1 report on synostosis of the left first and second ribs. Probably two first cousins once removed who both had all observers would accept this man as having the Poland's syndrome (PS). We agree with his general full PS. His three daughters (aged 25, 18, and 16 conclusion that for purposes of genetic counselling years) all showed hypoplasia of the right breast and the recurrence risk is very low. Despite this, it nipple, and in addition the 18-year-old girl had should be appreciated that there are an increasing brachydactyly of the right hand. Liebenham7 number ofreports offamilial PS. Part of the problem reported a pair of identical female twins who were lies in the interpretation of the limits of PS. For apparently discordant for PS. The normal co-twin example, Temtamy and McKusick2 define it as may, in fact, have been minimally affected because "unilateral aplasia of the sternocostal head of the Liebenham7 says, "the right thorax appears to be pectoralis major and brachydactyly±syndactyly of somewhat thinner in its total formation and the right the ipsilateral hand". It is recognised by most mamilla is somewhat lower than the left". She noted workers in the field that the hand malformation is a difference in the shoulders and in the position, variable and not confined to that which was described form, and size of the shoulder blades. Thus there by Alfred Poland. It can range from brachydactyly, may be concordance but extreme variable expression. usually of the middle phalanges, to a severe mal- The late David W Smith8 mentions two sibships formation comparable with a split hand or even in the third edition of his classic textbook Recogniz- monodactyly. The question as to whether those able patterns of human malformation, in which thecopyright. persons with isolated pectoralis major deficiency proband had the full PS whereas a sib in one (PMD) are part of the Poland spectrum or whether instance had only absence of the pectoral muscle, they are a separate entity is unanswered, though and in the other instance only syndactyly of the information is emerging which suggests that some hand. These four reports3 5 6 8 illustrate the concept cases of isolated PMD are part of the Poland of variable expression and should be counted as spectrum. examples of familial PS and not dismissed as a It seems likely that the original patient of different condition as David' has done with the http://jmg.bmj.com/ Fuhrmann et al3 should be considered as having PS. report of Fuhrmann et al3 Liebenham's case7 is Two of this man's five children had anomalies less certain but it should not be dismissed completely consistent with partial expression of PS, and while as an example of discordance. David1 concedes that the man had PS, he suggests In an earlier publication, Bouvet et a19 mentioned that he and his children were sufficiently atypical to three familial examples of PS but few details were suggest a different in because none given. In two families both affected persons had the condition, part full PS. of the three had syndactyly. We disagree with this on September 30, 2021 by guest. Protected view. We are in agreement with David in rejecting Family G. An affected brother and sister. Both the report of Trosev et a14 as an example of PS, and had absence of the left pectoralis major; the hopefully he has corrected this misinterpretation girl had a type III hand malformation that has crept into the literature. The report of (classification of Bouvet et a19) with an absent Sujansky et a15 of familial PS is analogous to that of nipple, whereas the boy had a type I hand Fuhrmann et al,3 that is, there is one typical PS case malformation. There was no parental plus one partial case. The two affected persons are consanguinity. first cousins once removed. These authors considered Family P. Affected first cousins (male and the aetiology to be possibly the result of delayed female). Both showed right-sided absence of the mutation. pectoralis major muscle, and type I hand Further published reports show the familial malformation with syndactyly between digits association between complete and partial cases of 2-3-4. The affected female had absence of the PS. Mustata et a16 reported a man with brachydactyly right breast although a nipple was present. and partial syndactyly of digits 2 to 3 of the right Neither had any associated malformations and hand, absence of the sternocostal and clavicular there was no parental consanguinity. 152 J Med Genet: first published as 10.1136/jmg.20.2.152 on 1 April 1983. Downloaded from Correspondence 153 The third family of Bouvet et a19 is much less incidence for the full Poland syndrome of 1/36 000. certain, as it involves one case of the full PS and a There were an additional nine cases of pectoralis second cousin once removed with syndactyly of all muscle deficiency only, giving a combined incidence digits of one hand. This may be a fortuitous event figure of 1/26 000. These figures are comparable to and should not necessarily be construed as an those published by Castilla et al,13 which were example of familial PS. 1/50 000 for the full PS and 1/22 000 for all PMD The two families of Bouvet et a19 (G and P) thus infants. These two studies, from British Columbia, bring the total number of familial instances of PS to Canada and from South America, are the only large eight. At the moment the explanation for the fact scale population studies that the authors are aware that the vast majority of PS cases are sporadic and of. The figure of 1/17 000 from Japan "6and 1/3000 only a very small minority are familial is unknown. from France17 are prevalence figures rather than The delayed mutation theory of Auerbach proposed incidence. One reference, from West Germany,'8 to by Sujansky et a15 may be operative, but it could a frequency of 1/9300 births gives no data and the equally well be a two locus model such as that supporting reference does not mention this figure at demonstrated by Chai'0 in the case of mouse all. ectrodactyly. It still does not explain the strict laterality of the syndrome which is unusual for This work was supported in part by the Alberta either a gene(s) or a teratogen. As always, there are We thank Mrs exceptions: Hecht and Scott"1 have described Children's Hospital Foundation. unilateral hand malformations in sibs where there Eleanor Broscoe for secretarial assistance. was parental consanguinity, suggesting an autosomal J-P trait. The situation in PS is somewhat R B LoWRY* AND BOUVETt recessive * Division of Medical Genetics, analogous to that of Down's syndrome before its Department ofPediatrics, chromosomal basis was demonstrated, that is, the University of Calgary, and vast majority of Down's syndrome cases were Alberta Children's Hospital, Calgary, sporadic but there were a few familial cases. This and defied genetic explanation at the time until Alberta, Canada T2T5C7; copyright. techniques had advanced which made the whole tHdpital Ambroise-Pare, matter quite clear. Although the aetiology remains 9 Avenue Charles de Gaulle, 92100 Boulogne, France. unclear, nevertheless the pathogenesis may well be on a vascular basis as proposed by Bouvet et al.'2 Castilla et al13 have published additional evidence suggesting that isolated PMD and isolated References http://jmg.bmj.com/ symbrachydactyly may represent partial expression 1 David TJ. Familial Poland anomaly. J Med Genet of PS. They showed that the cases with full PS, 1982 ;19 :293-6. those with PMD only, and those with symbrachy- 2 Temtamy S, McKusick VA. Synopsis of hand mal- dactyly only had a similar pattern with respect to formations with particular emphasis on genetic factors. Birth Defects 1969 ;5(3) :125-84. asymmetry, sidedness, and syndactyly type as 3 Fuhrmann W, Mosseler U, Neuss H. Zur klinik und compared to isolated finger syndactyly. Castilla et genetik des poland-syndroms. Dtsch Med Wochenschr al13 also showed a correlation between pectoralis 1971 ;96:1076-8. 4 Trosev K, Cervenka J, Gerberova E. Vrozena dysplazie muscle deficiency ± the hand anomaly and an on September 30, 2021 by guest. Protected musculi pectorales spojena s vrozenou vadou ruky a prstu increased frequency of sex hormone ingestion by the stejnostranne horni koncetiny. Acta Chir Orthop mother in the first trimester. They found no Traumatol Cech 1966; 33:320-7. correlation with any other drug and did not confirm 6 Mustata N, Vicas E, Petcu P. Sindromul Poland. Viata David's' earlier suggestion of ergot (or one of its Med 1976;23:173. as a and Lowry'4 7 Liebenham L. Awillingsrathologische Untersuchungen derivatives) teratogen. McGillivray aus dem Gebiet der Anomalien der Korperform. Partieller did not find the ergot association or any other Riesenwuchs. Angeborener Pecoralisdefekt. Dysostosis teratogen. Recently David15 has shown that cleidocranialis. Dysostosis craniofacialis. Z Menschl Debendox is not causally implicated in PS. Vererbu Konstit 1939;22:373-417. a comment on the There were 8 Smith DW. Recognizable patterns ofhuman malformation. Finally, incidence. 3rd ed. Philadelphia: Saunders, 1982:224. some errors in the calculations of incidence in the 9 Bouvet JP, Maroteaux P, Briard-Guillemot M.
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