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Canad. M. A. J. CASE REPORTS: MARFAN S SYNDROME 265 Jan. 30, 1960, vol. 82

ADDENDUM Members of the proband's family may present only On October 1, 1959, Dr. W. G. Bigelow closed this some of the main features of the "forme fruste". defect tusing the heart-lung bypass, and a heat exchanger Generally, the patient is underweight, lean, thin, to lower body temperature. It was described as "something tired and often has a under a centimetre in diameter lying anteriorly and fairly lanky and perpetually low". melancholic look. Poor development of the muscu- The patient's postoperative course was uneventful, but lature and subcutaneous tissue exaggerates the it is too soon to know whether or not his angina is apparent emaciation. improved.

REFERENCES Skeletal Manifestations 1. PIERCE, E. C., DABBS, C. H. AND RAWSON, F. L.: A.I.A. Arch. Surg., 77: 87, 1958. Usually the skull is dolichocephalic, with a long 2. PARMLEY, L. F.. MANION, NN. C. AND MArrINGLY, T. XV.: Circulation, 18: 3711, 1958. narrow face, high forehead, and underdeveloped 3. INKLEY, S. R. AND BARRY, F. AI.: Ibid., 18: 916, 1958. and underslung lower jaw. The palate is usually 4. CARY, F. H., HURST, J. W. AND ARENTZEN, MC. R.: NVeiv the external England J. Med., 258: 355, 1958. narrow and often high-arched,4 and 5. LEwIS, D. H. et al.: Circulation, 16: 764, 1957. ears are sometimes deformed. The extremities are 6. FERUGLIO, G. A.: Studies in intracardiac phonocardlio- clinically graphy in nman. Proceedings, 20th Congress Italian unusually long, thin and slender. Both Society of Cardiologists, 2: 485, 1958. and radiologically, the phalanges-particularly the 7. BAILEY, 0. T. AND HICKMANT, J. B.: Amit. Heart J., 28: 5.78, 1944. terminal phalanges-and metacarpal and metatarsal 8. DANISON, S.: J. Mllt. Sintai Hosp., 14: 941, 1948. bones are long and thin. The feet are long like 9. FE:RUGLIO, G. A. AND DALLA AVOLTA, S.: Prelinminary results of a new technique of phonocardiographic "fox-feet". Anomalies of the thorax occur in about intracavitary registration. Proceedings, 3rd World Congress of Cardiology, Brussels, 1958. one in four cases. Pectus excavatum or funnel breast, 10. LEwis, D. H. et al.: Pediatr-ics, 23: 837, 1959. and scoliosis, kyphosis or lordosis have frequentdy 11. MIORITz, A. R.: J. A. M. A., 156: 1306, 1954. Pectus carinatum or pigeon breast, 12. CORE, I.: Ann. Imtt. Med., 33: 865, 1950. been recorded. 13. SISSMAN, N. J. et al.: Circulation, 19: 458, 1959. winging of the scapuloe, hemivertebrx and "fanning" 14. FAIVRE, G., GILGENKRANTZ ET TENETTE: Arch. Ioal. of the ribs have also sometimes been observed. CaC(?Ur, 51: 683, 1958. 15. PAI'LIN, C. AND RUBIN, I. L.: Am,. Heart J., 52: 940, The joints are often lax and hyperextensible. 1 956. Subluxation of the knees and dislocation of the hips may occur. Mery and Babonneix24 drew atten- tion to "high patella" in a further report of Marfan's original case. Booth et al.,=} similarly, recorded in- BILATERAL crease in length of the patellar ligament. Occasion- IN MARFAN'S SYNDROME: ally the syndrome is combined with arthrogryposis (such a case was observed in the Ottawa General REVIEW OF FEATURES WITH Hospital).' REPORT OF TWO CASES* The muscles are usually poorly developed and flaccid. Amyotonia congenita was noted by Young39 ZAFAR H. ZAIDI, NI.B., B.S.,-t Ottawa, Ont. in a patient with arachnodactyly. Dystrophia myo- tonica has been recently described by Booth et al.- 1VIARFAN'S syndrome is an uncommon condition. colli (webbing of neck, an anomaly NIore than 350 cases have been reported since not generally associated with this syndrome) was Marfan,22 in 1896, described a five-year-old girl with present in two children with Marfan's syndrome, spider fingers (pattes d'araignee) and poorly de- recently described by Golden and Lakin.'16 veloped musculature. Subsequent reports have indi- cated that it may be associated with other anomalies. The syndrome is now well recognized in its classical Cardiovascular Anomalies form. but frequently goes unnoticed in its incom- Piper and Irvin-Jones32 stressed the frequency plete or atypical form ("forme fruste" ). The purpose of congenital cardiac anomalies. Baer et al.2 asso- of this paper is to present the clinical features of ciated arachnodactyly with developmental abnor- Marfan's syndrome in the light of a brief survey malities of the media of the aorta. Goyette and of the reported anomalies which may be found and Palmer17 reviewed the cardiovascular anomalies in in the reports of two cases with skeletal and ocular 33 cases of Marfan's syndrome from the literature manifestations. These patients belonged to two un- and one of their own. McKusick23 summarized such related families. Some of the other members of anomalies as follows: (1) Aortic defects: (a) these families had manifestations of this syndrome. dilatation of aortic ring; (b) dilatation of ascending aorta; (c) dissecting aneurysm; (d) combination of BRIEF SURVEY OF CLINICAL FEATURES a, b, and c; (e) coarctation; (f) patent ductus Although knowledge of the manifestations of arteriosus. (2) Anomalies of pulmonary arteries: (a) dilatation; (b) dissecting aneurysm; (c) micro- Marfan's syndrome is widely disseminated, often defects: only the classical form of the syndrome is diagnosed. scopic alterations of media. (3) Septal (a) atrial; (b) tetralogy of Fallot. (4) Valvular of the *F!.orIl the Ottaw a General Hospital and Department of abnormalities: (a) stretching and sacculation Pecliatrics, University of Ottawa, Ottawa, Ontario. cusps; (b) other gross and microscopical tChlief Residlent in Paediatrics. Ottawa General Hospital. aortic 266 CASE REPORTS: MARFAN'S SYNDROME Canad. M. A. J. Jan. 30, 1960, vol. 82

cases of Marfan's syndrome with bilateral ectopia lentis: they found old detachment of in one eye. Urogenital Anomnlies Urogenital defects have rarely been described in cases of Fig. 1 (Case 1).-Diagrammatic representation of the eyes Marfan's syndrome. Genital hypoplasia in showing: the right eye, with the dilated , and posterior males was described by Bbrger,4 and dislocation of the towards the temporal side; and the undescended left eye, with constricted pupil, and the dislocated lens in testes, by Haridas19 and Stern.36 Renal ectopia has the anterior chamber. been found by Olcott28 and Fischl and Ruthberg.13 Booth et al.5 reported one case with polycystic changes; (c) subacute bacterial endocarditis. (5) kidneys, and another with congenital ureteric Dysrhythmias and conduction defects. stricture. The association of aneurysm of the aorta and aortic insufficiency has been frequently reported Respiratory Anomalies in Marfan's syndrome. The aneurysm may produce Anomalies of the lungs are rare and have been indentation of the cesophagus demonstrable by described by Borger.4 Imperfect lobation of the fluoroscopy after ingestion of barium. Such a case lungs was recorded by Rados." was reported by Nath and Mittal.'6 Dimond et al.1" published the report an at of attempt surgical repair Mental Defects with a Hufnagel plastic valve in a patient with this syndrome who had developed aortic insufficiency The majority of patients appear mentally normal. secondary to trauma. Miller and Pearson25 recently However, Dax'0 observed mental defect in a num- reported mitral insufficiency simulating aortic ber of instances. Gibson" described four cases of stenosis, an unusual manifestation in Marfan's arachnodactyly in an institutional population, whose syndrome. They found a "jet lesion" consisting of associated mental defect varied in grade from thickened and elevated endocardium on the atrial moron to idiot. wall opposite' the mitral orifice. In another recent report, Burry7 described supra-aortic stenosis with CASE REPORTS this syndrome. Hardin'5 reported rupture of an CASE 1.-D.S., a six-year-old French-Canadian boy, abdominal aneurysm and fistula formation between was admitted to the Ottawa General Hospital on August the aorta and vena cava: repair with nylon pros- 29, 1957, because of diminution of vision, lacrimation, thesis was attempted. and pain in the left eye for one week. The onset had been fairly sudden. He was unable to see properly in bright light btut could watch television. Ocular Anomalies He had a normal full-term birth, weighing 7 lb. De- Ocular manifestations of Marfan's syndrome are velopmental history was apparently normal. Intelligence and behaviour were unremarkable. of interest and often as He appeared thin present problems of visual since birth. His long and slender limbs, fingers and disability in young children. Most important of toes had always caused difficulty in obtaining shoes of these is luxation of the lens. Borger reported in proper size. The right ear was congenitally deformed. detail a patient who had dislocation of lens and The mother also had a deformed and "shrunken" iridodonesis with arachnodactyly. Rados34 found right ear. One of the patient's sisters had long thin typical ocular manifestations, including ectopia fingers, toes and limbs; hypotonic musculature; high- lentis in 127 and ocular symptoms of questionable arched palate, and , but without any other significance- in 40 among 204 cases of Marfan's apparent ocular abnormality. There was no heart syndrome collected from the literature. Other asso- murmur. The rest of his 10 brothers and sisters were said to be ciated anomalies reported are: normal; no known history of abnormalities on of lens, the father's side or in the preceding generation. of lens, coloboma of , congenital Physical examination revealed a lean and thin boy or , poor response of pupil to the with a boat-shaped head and an elongated face. The action of atropine, myopia, , strabis- left external ear was normal but the right one appeared mus, and . Arcus juvenilis was associated prominent and deformed, was flat and flap-like in its in a case of this syndrome described by Golden upper part, and felt soft as if there was no cartilage. and Lakin."6 Black and Landy3 observed blue The palate was high-arched. sclerae in their cases. Gibson15 described extreme There was photophobia. Right eye: tremulous iris with dilated pupil; the lens, which appeared small, was with convergence one, myopia loss of in and in- found dislocated towards the temporal side (Fig. 1) creased epicanthic folds in another case of arach- and floating with a pendulum-like movement in the nodactyly. King2l reported ptosis with ectopia vitreous. Left eye: the lens was dislocated into the lentis and arachnodactyly. Baer et al.2 observed anterior chamber and was "trapped" by a well-con- stricted unexplained . Colour blindness was pupil (Fig. 1). It appeared like a floating drop of oil, changing its position with the position of the associated in the cases reported by Neresheimer27 head. Considerable ciliary injection was present. No and Booth et al. Ougard and Bedard29 reported two increase in intraocular pressure was apparent. Canad. M. A. J. Jan. 30, 1960, vol. 82 CASE REPORTS:'~~~~~~~~~~~MARFAN'S SYNDROME 267

Fig. 3 (Case 2).-Diagrammnatic representation of the eyes showing the dilated and bilateral, posterior dislocation of the lenises towards the tenmporo-stiperior side. siderable ciliary reaction and constriction of the pupil which responded poorly to atropine. In cases of Marfan's syndrome, it is difficult to detect any luxation of the lens in the presence of poor pupillary dilatation, sometimes even after instilla- tion of atropine. Often there is even with a lens of normal transparency and it is apparently caused by optical changes due to the fact that the equator of the lens occupies the optical centre of the eve. There is also superadded of the lens. Extraction of the lens is indicated in adults when cataract or loss of visual acuity interferes with occu- pation. In children, the problem is more difficult. Glasses should be prescribed, taking advantage of the aphakic portion of the eye and extraction of the lens until the vision becomes inade- Fig. 2 (Case 2).-Photograph showing long and slen-der delayed limbs with thini anid elongated hands, fingers, feet and toes. quate. Choyce8 reported a case of Marfan's syn- drome, with spontaneous dislocation of the lens in The limbs were long, slender and hypotonic; finigers the anterior chamber of the eye, where an attempt and toes were unusually long and thin. A mild degree of to replace the lens in the posterior chamber by scoliosis was present on the left side. The examiniation the technique described by Das Gupta and Basu9 of other systems revealed nio abnormality. led to the onset of acute congestive . In The lens was removed from the anterior chamber of the left eye. Eserine had been instilled before cases of anterior dislocation, he suggests removing operation to keep the pupil constricted and the lens in the lens without delay. In the first case presented the anterior chamber. Recovery was uneventful. In here removal of the lens from the anterior chamber July 1959, lhe was wearing glasses which gave him greatly relieved the considerable ciliary reaction. useful vision in spite of some degree of amblyopia. The etiology of Marfan's syndrome is obscure. The disorders have been explained on the basis of CASE 2.-F.H., a six-year-old Irish-Canadian boy, was congenital mesodermal dystrophy, determined early seen on May 14, 1959, in the outpatient clinic of the in embryonic life. Marfan's syndrome is also Ottawa General Hospital because of poor visionl. He ascribed to hormonal disturbance. Stern3 suggests had a normal full-term birth and development. His a genotype change affecting both the mesoderm intelligence and behaviour were normal. He had been of and endocrines. McKusick-'3 presumed it to be an thin build since birth. One of his sisters, aged 14, was abiotrophy involving the elastic tissue which wears said to have long and thin limbs, fingers, feet and toes. out under the usual stress and strain. His brothers and other sisters, seven in all, seemed prematurely normal. It has been found that about 40% of those with Physical examination showed a slender boy with arachnodactyly, like the cases presented here, also long and slender limbs, hands, fingers, feet and toes had bilateral congenital ectopia lentis. Pino et Al.31 (Fig. 2). All limbs were hypotonic. Each patellar liga- explain it as a dystrophic change in the tunica ment measured approximately an inch (2.5 cm.) in vascularis lentis, a mesodermal derivative which length. The face was elongated and the palate was invests the embryonic lens, or as due to a defective high-arched. There was no photophobia. When the suspensory ligament. pupils were dilated, the lens on each side was found A reasonable interpretation would be that two to be dislocated posteriorly, upwards and to the tem- dominant genes are linked in this syndrome, one poral side (Fig. 3). Intraocular tension was apparently affecting the lens and the other the skeleton. Ecto- not increased. pia lentis, which is a strict dominant by itself, is frequently missing in histories of arachnodactyly, COMMENTS but this absence might be explained by an inter- In both of these cases the presenting symptoms genic effect in which the ectopia is suppressed. If were related to the dislocation of the lens. In Case this explanation is correct, as Gates14 suggested, one 1, the anterior dislocation of the lens in the left eye would expect to find families with arachnodactyly was presumably spontaneous and gave rise to con- but without ectopia lentis. M. 268 SHORT COMMUNICATION: BISACODYL IN GWIATIC PATIENTS Canad.Jan. 30, 1960,.J.vol. 82

3. BLACK, H. H. AND LANDAY, L. H.: A.M.A. Am. J. Dis. Scoliosis, dissecting aneurysms of the aorta, Child., 89: 414, 1955. 4. B6RGER, F.: Cited by Booth, C. C., Loughridge, L. W. and other cardiovascular lesions, similar to those and Turner, M. D..: Brit. M. J., 2: 80, 1957. seen in Marfan's syndrome, have been experi- 5. BOOTH, C. C., LOUGHRIDGE, Li. W. AND TURNER, M. D.: Ibid., 2: 80, 1957. mentally produced in rats fed Lathyrus ororatus 6. BREMER, F. W.: Deutsche Ztschr. Nervenh., 95: 1, 1926. Cited by Gates, R. R. (sweet pea) seeds, as reported by Ponseti and 7. BURRY, A. F.: Brit. Heart J., 20: 143, 1958. 8. CHOYCE, D. P.: Brit. J. Ophth., 41: 446, 1957. Baird,33 and Walker and Wirtschafter.37 McKusick23 9. DAS GUPTA, B. K. AND BASU, R. K.: Ibid., 39: 566, 1955. 10. DAX, E. C.: J. Ment. Sc., 87: 434, 1941. pointed out that although the basic defects were not 11. DIMOND, E. G. et al.: New England J. Med., 256: 8, 1957. 12. ELLIS, R. W. B.: Arch. Dis. Child., 15: 2:67, 1940. identical in the natural and the experimental syn- 13. FISCHL, A. A. AND RUTHBERG, J.: J. A. M. A., 146: 704, dromes, such studies may provide a lead to the 1951. 14. GATES, R. R., Human genetics. The Macmillan Company, inborn errors of metabolism which might have New York, 1946, pp. 779, 780. 15. GIBSON, R.: Canad. M. A. J., 75: 501, 1956. formed the basis of the abnormality of the aorta in 16. GOLDEN, R. L. AND LAKIN, H.: New Entglantd J. Med., 260: 797, 1959. Marfan's syndrome. 17. GOYETTE, E. M. AND PALMER, P. W.: Circulation, 7: 373, 1953. Passow30 endeavoured to link up this syndrome 18. HARDIN, C. A.: New England J. Med., 260: 821, 1959. of 19. HARIDAS, G.: Arch. Dis. Childhood, 16: 257, 1941. with that of status dysraphicus, a mild form 20. JOHNSON, S. A. M. AND FALLS, H. F.: Arch. Dermat. & syringomyelia, or faulty closure of neural tube. Syph., 60: 82, 1949. 21. KING, E. F.: Proc. Roy. Soc. Med., 27: 298, 1934. He noted its frequent association with Homer's 22. MARFAN, A. B.: Cited by Booth, C. C., Loughridge, L. W., and Turner, M. D.: Brit. M. J., 2: 80, 1957. syndrome and heterochromidia iridis, which are 23. McKUSICK, V. A.: Circulation, 11: 321, 1955. 24. M§RY, H. AND BABONNEIX, L.: Cited by Booth, C. C., both dependent on disturbance of the cervical Loughridge, L. W. and Turner, M. D.: Brit. M. J. 2: 80, 1957. sympathetic. Bremer¢ had found long span, funnel 25. MILLER, R., JR. AND PEARSON, R. J., JR.: New England J. chest, kyphoscoliosis, winged scapulm and unequal Med., 260: 1210, 1959. 26. NATH, K. AND MITTAL, S. P.: J. Indian M. A., 32: 364, 1959. mammm associated with syringomyelia in families. 27. NERESHEIMER, R.: Cited by Booth, C. C., Loughridge, Li. W. and Turner, M. D.: Brit. M. J., 2: 80, 1957. Ellis12 pointed out that in several other syndromes, 28. OLCOTT, C. T.: Am. J. Di.v. Child.. 60: 660. 1940. 29. OUGARD, A. G. AND B]DARD, P. V.: Rev. d'Oto-Neuro- skeletal and ocular abnormalities are both present, Ophth., 29: 44. 1957. 30. PASSOW, A.: Miwnchen nmed. Wchnschr., 81: 1243, 1934. namely, gargoylism or chondro-osteo-dystrophy and Cited by Gates, R. R. 31. PINo, R. H., COOPER, E. L. AND VAN WIEN, S.: Ann. Int. , apical dystrophy and coloboma,35 Med.. 10: 1130, 1937. punctate epiphyseal dysplasia and cataract, and 32. PIPER, R. K. AND IRVIN-JONES, E.: Am. J. Dis. Child., 31: 832, 1926. polydactyly with retinal dystrophy. Gates suggested 33. PONSETI, I. V. AND BAIRD, W. A.: Am. J. Path., 28: 1059, 1952. the addition of brittle bones and blue sclerae. The 34. RADoS, A.: Arch. Ophth., 27: 477, 1942. 35. SORSBY, A., AVERY, H. AND COCKAYNE, E. A.: Quart. J. similarity of some of these features of Marfan's Med., 8: 51, 1939. 36. STERN, H. J.: Brit. J. Ophth., 28: 229, 1944. syndrome with those of Ehlers-Danlos syndrome is 37. WALKER, D. G. AND WIRTSCHAFTER, Z. T.: A.M.A. Ai-ch. Path.. 61: 125, 1956. interesting, and includes also hyperextensibility of 38. YOUNG. M. L.: Arch. Dis. Childhood. 4: 190, 1929. the joints. Sometimes congenital lenticular anomalies 39. ZAIDI, Z. H.: Brit. M. J., 2: 175, 1959. are present in the Ehlers-Danlos syndrome (recently pointed out in a previous paper39), for example, lenticular opacities, observed by Johnson and Falls.20 SUMMARY SHORT COMMUNICATION A brief survey of the abnormalities which may be found in patients with Marfan's syndrome is given. The two patients described, from two different families, THE USE OF A RECTAL SUPPOSITORY had bilateral ectopia lentis. The lens of the left eye of OF BISACODYL (DULCOLAX) IN the first patient was dislocated into the anterior chamber. GERIATRIC PATIENTS* I am indebted to Dr. J. D. Allen, associate professor of , for his help and permission to include his J. G. PINCOCK, M.D., F.A.C.P., St. James, Man. cases, to Dr. D. J. Conway, professor of p~ediatrics, University of Ottawa, for his suggestions, and to Miss M. Gauthier, for her secretarial assistance. IN A LARGE geriatric unit the maintenance of proper bowel control becomes an important aspect of ADDENDUM patient care. Inadequate evacuation can frequently Since this paper was submitted for publication, a result in serious consequences, notably diarrhaea, case of Marfan's syndrome has been reported (Tuna, impaction, obstruction and, as well, urological N.: Dis. Chest, 36: 204, 1959), in which the patient problems secondary to the pressure of a loaded had a large aneurysmal venous dilatation in the right colon upon the bladder and sometimes upon the supraclavicular fossa about the size of a tennis ball, ureters. In order to prevent these problems, a which used to enlarge at the height of congestive careful review of bowel function is necessary in cardiac failure and disappear completely after improve- any unit which has a considerable number of ment. Apparently, this type of venous anomaly has bedridden patients. The use of repetitive enemas not been reported with this syndrome. The patient also has been a standard method of ensuring adequate had severe testicular atrophy and sexual impotence. evacuation. These, however, are time-consuming

REFERENCES *From the Department of Geriatrics, Deer Lodge Hospital, 1. Annual Psediatric Report. Ottawa General Hospital. 1958. Winnipeg, Manitoba. 2. BAER, R. W., TAUSSIG, H. B. AND OPPENHEIMER, E. H.: tBisacodyl is marketed under the trade-name of Dulcolax by Bull. John.s Hopkins Hosp., 72: 309, 1943. Geigy Pharmaceuticals.