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 muscle, hypoplasia of the right nipple, and absence of hair in the right Sir, axilla. He also had , , and We were interested to read Dr David's1 report on synostosis of the left first and second . 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 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 appears to be pectoralis major and brachydactyly± 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 and in the position, variable and not confined to that which was described form, and size of the 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. . 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 , 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- 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. Le papet by McGillivray and Lowry.'4 Corrected syndrome de Poland: etudes clinique et genetique- incidence figures showed there were 24 cases with the considerations physiopathologique. Nouv Presse Med full Poland born in the years 1952 to 1976;5:185-90. syndrome 1975, 0 Chai CK. Dactylaplasia in mice. J Hered 1981 ;72:234-7. and since there were 853 895 livebirths in that Hecht JT, Scott Cl. Recurrent unilateral hand mal- period in British Columbia, this gives a minimal formations in siblings. Clin Genet 1981 ;20:225-8. J Med Genet: first published as 10.1136/jmg.20.2.152 on 1 April 1983. Downloaded from 154 Correspondence 12 Bouvet JP, Leveque D, Bernetieres F, Gros JJ. Vascular member had the typical syndactyly. Therefore, as origin of Poland syndrome? A comparative rheographic study of the vascularization of the of eight patients. the title implied, our families with Saethre-Chotzen Eur J Pediatr 1978;128:17-26. syndrome were not included in the paper and we do 13 Castilla EE, Paz JE, Orioli IM. Pectoralis major muscle not believe that families 4, 8, or 10 had this condition. defect and Poland complex. Am J Med Genet 1979;4: The degree to which the reported heterogeneity of 263-9. 14 McGillivray BC, Lowry RB. Poland syndrome in British the syndromes represent true Columbia: incidence and reproductive experience of genetic heterogeneity must await biochemical or affected persons. Am J Med Genet 1977;1 :65-74. linkage markers for the genes or both. In the 15 David TJ. Debendox does not cause the Poland anomaly. meantime it remains true that patients who haxe Arch Dis Child 1982;57:479-80. 16 Sugiura Y. Poland's syndrome. Clinico-roentgenographic craniosynostosis in association with other study on 45 cases. Congen Anom 1976;16:17-28. dysmorphic features, notably of the hands, are more 17 Gnamey D. Le syndrome de Poland (considerations at risk to represent a single gene mutation than are etiologiques). Lille Med 1974;19:953-6. those with isolated craniosynostosis. 18 Mohlbauer W, Wangerin K. Zur Embryologie und Atiologie des Poland- und Amazonensyndromes. ALASDAIR HUNTER Handchirurgie 1977;9 :147-51. Division of Genetics, Children's Hospital ofEastern Ontario, Craniosynostosis Ottawa, Ontario, Canada KIH 8LL. SIR, References In their interesting paper on families with Carter CO, Till K, Fraser V, Coffey R. A family study of Professor Carter and co-workers' craniosynostosis, with probable recognition of a distinct craniosynostosis, syndrome. J Med Genet 1982;19:280-5. suggest that our higher incidence of apparent 2 Hunter AGW, Rudd NL. Craniosynostosis. 11. Coronal autosomal dominant coronal synostosis may result synostosis; its familial characteristics and clinical findings from our inclusion of patients with Saethre-Chotzen in 109 patients lacking bilateral polysyndactyly or and other syndromes our syndactyly. Teratology 1977;15:301-10. among study group.2 3 Slover R, Sujansky E. Fronto-nasal dysplasia with Certainly, if the minor hand anomalies to which we coronal synostosis in three sibs. Birth Defects 1979;copyright. referred have the same aetiology as the cranio- XI(5B) :75-83. synostosis, then some families had 'private' syndromes. We agree that family number 1 has what Pericentric inversion of chromosome 13 the authors call the 'split face syndrome', and that it is like the family reported by Slover and Sujansky.3 SIR, However, in the interest of clarity, we would like to In 1972 a paper from our laboratory described a point out that we did not make a diagnosis of large family with a pericentric inversion of chromo- http://jmg.bmj.com/ Saethre-Chotzen syndrome unless at least one family some 13, leading to a duplication deficiency

l~~~ ~ ~ ~ ~ ~~~~Eai l 2 Lb: on September 30, 2021 by guest. Protected

IV

i] i) Normal * Spontaneous abortion O Spontaneous abortion mosaic inv (13) (p 11 q 22)/inv (13) (p11 q22),.(13) A i Inv (13) (p1l q22) / Proband A Abortus provocatus, rec (13) dup q, U * Rec (13) dup q, Inv (13) ER Congenitally abnormal, inv (13) (p 11 q 22) type I (p1l q22) type dead, not tested A Chromosome studies done on W13 (e Dead, not tested o Spontaneous abortion amniotic fluid rec (13) dup p, inv (13) Li 0 Not tested (p 11 q 22) type 2 FIG, 1 Pedigree offamily.