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And Radiologically, the Phalanges-Particularly the 7 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 ECTOPIA LENTIS 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. Pterygium 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 retina 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 pupil, and posterior males was described by Bbrger,4 and dislocation of the lens 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. photophobia 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 myopia, 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: cataract normal; no known history of abnormalities on of lens, the father's side or in the preceding generation. coloboma of lens, coloboma of iris, congenital Physical examination revealed a lean and thin boy mydriasis or miosis, poor response of pupil to the with a boat-shaped head and an elongated face. The action of atropine, myopia, megalocornea, strabis- left external ear was normal but the right one appeared mus, and nystagmus. 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.
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