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The Marfan syndrome
THE MARFAN
SYNDROME
Henry B. Fitch, Colonel, DC, UXA,” Captain, DC, U8A””
and Richard
T. Xecord,
T
HE Marfan syndrome is a congenital and hereditary condition characterized by arachnodactyly with bilateral ectopia 1entis.l Marfar- described the syndrome in 1896. McKusick3 had noted some 400 cases in the literature by 1960. Probably his studies of the syndrome were as extensive as any recorded in literature, and McKusick also stated that the bones of the skull and face are affected with resulting dolichocephaly (long head), highly arched palate, long, narrow face, and prognathism. A very limited amount of information concerning this heritable disorder of connective tissue appears in the dental literature; however, any dental treatment planning should definitely be related to the systemic disturbance. The Marfan syndrome, or arachnodactyly, being a disorder of the connective tissue, involves mainly the eyes, bones, ligaments, tendons, and cardiovascnlar system. The cause is a mutation appearing spontaneously or inherited as a Mendelian dominant.4 Not all manifestations are evident at first but may appear later as the connective tissue, especially the elastic fibers, becomes weakened under normal stresses. The incidence of the syndrome has not been determined, but it appears to have no preference for sex or race. It would be very seldom that a dentist would receive an undiagnosed case. The usual case shows dolichocephaly with a high arched palate. The long bones are extremely thin and long (arachnodactyly) , and the span of the arms is greater than the actual height of the patient. The patient may exhibit pectus excavatum (funnel breast) or pectus carinatum (pigeon breast) as a result of overgrowth of ribs and “spurs.” Slit-lamp examination of the eyes usually reveals ectopia lentis (displacement of the crystalline lens of the eye), with the suspensory ligaments showing redundancy and rupture. Occasionally blue sclerae and deformities of the lens and cornea occur.5 This unusually blue supporting tunic of the eyeball is also associated with dentogenesis imperfecta and osteogenesis imperfecta. This material has been reviewed by the Oillce of The Surgeon General, Department of the Army, and there is no objection to its presentation and/or publication. This review does not imply any indorsement of the opinions advanced or any recommendation of such products as may be named. *Consultant in Periodontics to the Assistant Surgeon General and Chief of the Dental Corps, Department oP the Army: Director of Dental Education and Chief, Periodontics, Ireland Army Hospital, Fort Knox, KY. **Ireland Army Hospital, Fort Knox, KY. 373
374 The most serious manifestations c,t’ the disease ~vhicl~ w~ultl c~~mrr~ the planning of dental treatment are the c;rrclio\-ascul~l~ cft’ccts ~~-hic~hmay occur without aracl~nodactyly.6 Theac changes ma\- result it, a wakening of the: ilo& due to a degeneration of the elastic fihws in the mwlia. The wakening of the aorta predisposes the patient to a tlisscxting ancu~~~~ and is ftw~ocnt~ly the cause of death. The aortic ring may also stretch. lcadirlg to a valvular separation with a resultant, angina and cardiac failurcb. Two cases were reccntl~ rcfcrwcl to the dental wrviw of a large military hospital for routine dental care. C’ASE 1 .-The patient was a (iyz-year-old Caucasian girl. She was 511h inches tall anIl weighed 581/z pounds. The blood pressure was lOO/GO, and the pulac rate was 96. The physical appearance was typical of the Marfan syndrome, with arachnoddctyly and dolichoccphaly quite pronounced. The patient had experienced some degree of gastrocnemius muscle tightening, but this was later allcviatecl with physical therapy. There was myopia with subluxation of the lcnsos of both eyes. Three months previous to this dental examination the patient experienced a mild cerebral diplegid which Tl-as not localized. The electroencephalogram was tlgsrhythmic nut1 slow for a child of that age. The electrocardiogram was essentially normal, but a Gratle I systolic n~urmur had beeu noted and considered functional, The patient’s mot,her, maternal grandfather, and several maternal uncles were extremely tall, hut no tliagnosis of the Marfan syndrome had ever been made. Fig. 1 illustrates the patient’s long fingers arachnodactyly or spider form) as compared with those of a normal child of the same age Fig. 2). Dental clinical examination and dental roentgenograms (Fig. 3) in[liwted a mixed tissues appearrd normal in size, color, and texture ; thta llalate was lentition ; supporting
Fig.
1.
MARFAN
Volume 16 Number 3
375
SYNDROME
extremely high and arched. The only deciduous teeth remaining were the four cuspids. There was high caries activity, and most of the deciduous molar teeth had been extracted because Succedaneous anterior of extensive caries ; others had been lost through normal exfoliation. teeth had been erupted for one year; the lower left first molar was extracted six months previously because of extensive caries; the upper first premolars had pulp involvements caused
Fig.
Fig.
S.-Dental
roentgenograms
2.
of a 6%-year-old
child
with
Marfan’s
syndrome.
by caries and had been erupted for five months. The crowns OC tlw upper a.ni.erior trcth appeared to be large; mesiodistal measurements of the central and lateral incisors were II mm. and 9 mm., respectively. These mc?asurements, as ~11 as the size of the posterior teeth, were greater than the figures which Black7 indicated were the maximum for normal I c&h. The patient had a Class II, Division 1 maloc,clusion which wns quite pronouncc~l I~c:ause of the size of the anterior teeth and rxtreme linguoversion of tho maxillary lateral incisors. CASE 2.-This patient was a 20.year-oltl male Caucasian military inducter:. lie was 76 inches tall and weighed 150 pounds. Although he had been accepted for military service, reexamination by a medical officer soon after initiation of his recruit, training indicated that he had congenital dislocation of both lenses. During the period of t.imc that this patient was awaiting separation from the military service, he was referred to the dental service for a minor dental treatment. Clinical examination and dental roentgenograms indicated no apparent oral manifestations of the syndrome except for the high, arched palate. A retained deciduous tooth without an apparent suceedaneous tooth was the only unusual finding (Fig. 4). The physical appearance of the patinlt was striking in that his arm span was much greater than his actual height.
Volume 16 Number 3
MARFAN
SYNDROME
377
DISCUSSION
Two cases of the Marfan syndrome have been presented. The oral manifestations probably were typical of many persons exhibiting no congenital connective tissue disorders and could not in any way be diagnostic for the syndrome. REFERENCES
1. Dorland’s Illustrated Medical Dictionary, etl. 23, Philadelphia, 1957, W. B. Saunders Comnanv. 2. Marfan, A. By: Un cas de deformation congenitale des quatre membres plus prononcee aux extremitites character-i&e par l’allongement des OS avec un certain degre d’amincissement, Bull. et mem Sot. med Hap. Paris 13: 220, 1896. 3. McKusick, Victor A.: Heritable Disorders of Connective Tissue, ed. 2, St. Louis, 1960, The C. V. Mosby Company, pp. 45, 46. 4. Weve, H.: tiber Arachnodaktylie (Dystrophia mesodermalis congenita, typus Marfanis), Arch. Augenh. 104: 1, 1931. 5. Cecil, R. L., and Loeb, R. F.: A Textbook of Aledicine, ed. 10, Philadelphia, 1959, W. B. Saunders Company, p. 1405. 6. Baer, R. W., Taussig, H. B., and Oppenheimer, E. H.: Congenital Aneurysmal Dilation of the Aorta Associated With Arachnodactyly, Bull. Johns Hopkins Hosp. 72: 309, 1942. 7. Black, G. V.: Dental Anatomy, Philadelphia, 1902, S. S. White Dental Mfg. Co.
SYNDROME
Henry B. Fitch, Colonel, DC, UXA,” Captain, DC, U8A””
and Richard
T. Xecord,
T
HE Marfan syndrome is a congenital and hereditary condition characterized by arachnodactyly with bilateral ectopia 1entis.l Marfar- described the syndrome in 1896. McKusick3 had noted some 400 cases in the literature by 1960. Probably his studies of the syndrome were as extensive as any recorded in literature, and McKusick also stated that the bones of the skull and face are affected with resulting dolichocephaly (long head), highly arched palate, long, narrow face, and prognathism. A very limited amount of information concerning this heritable disorder of connective tissue appears in the dental literature; however, any dental treatment planning should definitely be related to the systemic disturbance. The Marfan syndrome, or arachnodactyly, being a disorder of the connective tissue, involves mainly the eyes, bones, ligaments, tendons, and cardiovascnlar system. The cause is a mutation appearing spontaneously or inherited as a Mendelian dominant.4 Not all manifestations are evident at first but may appear later as the connective tissue, especially the elastic fibers, becomes weakened under normal stresses. The incidence of the syndrome has not been determined, but it appears to have no preference for sex or race. It would be very seldom that a dentist would receive an undiagnosed case. The usual case shows dolichocephaly with a high arched palate. The long bones are extremely thin and long (arachnodactyly) , and the span of the arms is greater than the actual height of the patient. The patient may exhibit pectus excavatum (funnel breast) or pectus carinatum (pigeon breast) as a result of overgrowth of ribs and “spurs.” Slit-lamp examination of the eyes usually reveals ectopia lentis (displacement of the crystalline lens of the eye), with the suspensory ligaments showing redundancy and rupture. Occasionally blue sclerae and deformities of the lens and cornea occur.5 This unusually blue supporting tunic of the eyeball is also associated with dentogenesis imperfecta and osteogenesis imperfecta. This material has been reviewed by the Oillce of The Surgeon General, Department of the Army, and there is no objection to its presentation and/or publication. This review does not imply any indorsement of the opinions advanced or any recommendation of such products as may be named. *Consultant in Periodontics to the Assistant Surgeon General and Chief of the Dental Corps, Department oP the Army: Director of Dental Education and Chief, Periodontics, Ireland Army Hospital, Fort Knox, KY. **Ireland Army Hospital, Fort Knox, KY. 373
374 The most serious manifestations c,t’ the disease ~vhicl~ w~ultl c~~mrr~ the planning of dental treatment are the c;rrclio\-ascul~l~ cft’ccts ~~-hic~hmay occur without aracl~nodactyly.6 Theac changes ma\- result it, a wakening of the: ilo& due to a degeneration of the elastic fihws in the mwlia. The wakening of the aorta predisposes the patient to a tlisscxting ancu~~~~ and is ftw~ocnt~ly the cause of death. The aortic ring may also stretch. lcadirlg to a valvular separation with a resultant, angina and cardiac failurcb. Two cases were reccntl~ rcfcrwcl to the dental wrviw of a large military hospital for routine dental care. C’ASE 1 .-The patient was a (iyz-year-old Caucasian girl. She was 511h inches tall anIl weighed 581/z pounds. The blood pressure was lOO/GO, and the pulac rate was 96. The physical appearance was typical of the Marfan syndrome, with arachnoddctyly and dolichoccphaly quite pronounced. The patient had experienced some degree of gastrocnemius muscle tightening, but this was later allcviatecl with physical therapy. There was myopia with subluxation of the lcnsos of both eyes. Three months previous to this dental examination the patient experienced a mild cerebral diplegid which Tl-as not localized. The electroencephalogram was tlgsrhythmic nut1 slow for a child of that age. The electrocardiogram was essentially normal, but a Gratle I systolic n~urmur had beeu noted and considered functional, The patient’s mot,her, maternal grandfather, and several maternal uncles were extremely tall, hut no tliagnosis of the Marfan syndrome had ever been made. Fig. 1 illustrates the patient’s long fingers arachnodactyly or spider form) as compared with those of a normal child of the same age Fig. 2). Dental clinical examination and dental roentgenograms (Fig. 3) in[liwted a mixed tissues appearrd normal in size, color, and texture ; thta llalate was lentition ; supporting
Fig.
1.
MARFAN
Volume 16 Number 3
375
SYNDROME
extremely high and arched. The only deciduous teeth remaining were the four cuspids. There was high caries activity, and most of the deciduous molar teeth had been extracted because Succedaneous anterior of extensive caries ; others had been lost through normal exfoliation. teeth had been erupted for one year; the lower left first molar was extracted six months previously because of extensive caries; the upper first premolars had pulp involvements caused
Fig.
Fig.
S.-Dental
roentgenograms
2.
of a 6%-year-old
child
with
Marfan’s
syndrome.
by caries and had been erupted for five months. The crowns OC tlw upper a.ni.erior trcth appeared to be large; mesiodistal measurements of the central and lateral incisors were II mm. and 9 mm., respectively. These mc?asurements, as ~11 as the size of the posterior teeth, were greater than the figures which Black7 indicated were the maximum for normal I c&h. The patient had a Class II, Division 1 maloc,clusion which wns quite pronouncc~l I~c:ause of the size of the anterior teeth and rxtreme linguoversion of tho maxillary lateral incisors. CASE 2.-This patient was a 20.year-oltl male Caucasian military inducter:. lie was 76 inches tall and weighed 150 pounds. Although he had been accepted for military service, reexamination by a medical officer soon after initiation of his recruit, training indicated that he had congenital dislocation of both lenses. During the period of t.imc that this patient was awaiting separation from the military service, he was referred to the dental service for a minor dental treatment. Clinical examination and dental roentgenograms indicated no apparent oral manifestations of the syndrome except for the high, arched palate. A retained deciduous tooth without an apparent suceedaneous tooth was the only unusual finding (Fig. 4). The physical appearance of the patinlt was striking in that his arm span was much greater than his actual height.
Volume 16 Number 3
MARFAN
SYNDROME
377
DISCUSSION
Two cases of the Marfan syndrome have been presented. The oral manifestations probably were typical of many persons exhibiting no congenital connective tissue disorders and could not in any way be diagnostic for the syndrome. REFERENCES
1. Dorland’s Illustrated Medical Dictionary, etl. 23, Philadelphia, 1957, W. B. Saunders Comnanv. 2. Marfan, A. By: Un cas de deformation congenitale des quatre membres plus prononcee aux extremitites character-i&e par l’allongement des OS avec un certain degre d’amincissement, Bull. et mem Sot. med Hap. Paris 13: 220, 1896. 3. McKusick, Victor A.: Heritable Disorders of Connective Tissue, ed. 2, St. Louis, 1960, The C. V. Mosby Company, pp. 45, 46. 4. Weve, H.: tiber Arachnodaktylie (Dystrophia mesodermalis congenita, typus Marfanis), Arch. Augenh. 104: 1, 1931. 5. Cecil, R. L., and Loeb, R. F.: A Textbook of Aledicine, ed. 10, Philadelphia, 1959, W. B. Saunders Company, p. 1405. 6. Baer, R. W., Taussig, H. B., and Oppenheimer, E. H.: Congenital Aneurysmal Dilation of the Aorta Associated With Arachnodactyly, Bull. Johns Hopkins Hosp. 72: 309, 1942. 7. Black, G. V.: Dental Anatomy, Philadelphia, 1902, S. S. White Dental Mfg. Co.