Heritable disorders of connective tissue / Victor A. McKusick.
- Victor A. McKusick
- Date:
- 1960
Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)
Credit: Heritable disorders of connective tissue / Victor A. McKusick. Source: Wellcome Collection.
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![Tìic Marian Syndrome 67 (Lcç/cnil continued.) A feature of equal diagnostic significance and of considerable genetic interest is the relative submersion of the full-blown skeletal manifestations when the Marfan mutation occurred in this pyknic stock. When first seen the patient did not impress anyone as being beyond the normal range as to habitus. Discovery of ectopic lenses resulted in the observer being more impressed with the habitus. Comparison with his brothers and sisters would likewise have impressed the physician with the patient's abnormality. Other members of the family were about 5 feet 3 inches tall and were very heavily muscled, with short powerful extremities and stubby fingers. The moral to the diagnostician is obvious. Although extensive studies of the families were not undertaken, several cases in the literature probably illustrate this same phenomenon.^'''' This case bears many resemblances to Case 3 of Tung and Liebow.^*' The type of aortic in¬ volvement which they illustrate is almost identical to that in Fig. 15C. Their patient, who died of aortic insufficiency at the age of 42 years, had had two herniorrhaphies and had varicose veins. Although the authors state that no suggestion of arachnodactyly nor of any other external sign of Marfan's syndrome [was] recorded by any of several senior physicians who were concerned with the care of this man, it must be noted that he died in 1932, which was before a single case of the Marfan syndrome had been reported in the internal medical literature of this country and over ten years before the association of aortic dilatation and arachnodactyly was first clearly described.'^ (From McKusick, V. A. : Circulation 11:321, 1955.) Fig. \6A. Pedigree of the F. kinship. II. 1, Charles ; died of acute indigestion at age 47 years. 4, Grant ; about 6 feet 4 inches tall, died at age 35 years ; two of his children died at 8 and 12 months, respectively. 8, Henry ; examined; unaffected. III. 1, James Aloysius; typical Marfan syndrome; 6 feet 4^ inches tall, size 13 shoe; ec¬ topia lentis with secondary cataract formation ; complete loss of vision from bilateral detach¬ ment of retina; early aortic diastolic murmur. 11, Josephine; examined; unaffected. 12, Clar¬ ence (352936) ; at age 32 years found to have complete detachment of right retina; left lens dislocated and cataractous ; partial detachment of left retina ; died at age 34 years, 18 days after onset of congestive heart failure attributed to syphilitic heart disease because of find¬ ing of aortic regurgitation. 13, Blanche; examined; unaffected. 15, Theodore (see Fig. 165) ; typical Marfan syndrome, with cardiovascular death in 1952. 16, Leona (see Figs. 16C to 16£) ; typical Marfan syndrome, with autopsy confirmation of dissecting aneurysm of the aorta. 17, James Leon (424834) ; ectopia lentis with severe secondary iridocyclitis and glaucoma; detachment of right retina; 75 inches tall, weight 172 pounds, kyphoscoliosis, varico¬ cele; lax sternocleidomastoid joints, mobile patellae, flat feet, cardiomegaly with globular shape by x-ray examination ; no murmurs. This individual and Theodore and Clarence always looked just like twins. Positive serologic test for syphilis. IV. 9, Mary Isabelle (844914), born 1939; definitely affected, with bilateral dislocation of lenses. 10, James Leroy (844924), born 194Ò; possible slight lens dislocation. 11, James Ar¬ thur (844925), born 1944; normal. 12, John Edward (844922), born 1945; normal. 13, David Theodore (844921), born 1950; definite Marfan syndrome; 38 inches tall at 30 months of age; long, peculiarly shaped head; dislocated lenses. 14, Joseph Mel vin (844923), born 1952; normal. V. 1, James Allen (844915), born 1945; uncertain status. 2, Mary Anne, born 1947; un¬ certain status.](https://iiif.wellcomecollection.org/image/b18030154_0072.JP2/full/800%2C/0/default.jpg)
