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Arachnodactyly

1945; Radiological Society of North America; Volume: 45; Issue: 3 Linguagem: Inglês

10.1148/45.3.220

1527-1315

Alex S. Parker, Hugh F. Hare,

Connective tissue disorders research

In 1896, Marfan first described the unusual syndrome now known as arachnodactyly when he reported the case of a child who exhibited extreme length and slenderness of the bones of the hands and feet. Marfan also called attention to the coexistence of other abnormalities. Pie considered the condition to be congenital or familial in origin and suggested for it the name of dolichostenomelia. Although this syndrome has been reported with considerable regularity by French and German physicians, arachnodactyly was not described in the American literature until 1926, when Piper and Irvine-Jones discussed the pathologic aspects of their case and stressed the frequency of the congenital cardiac abnormalities associated with this disease. During the past year we have seen four patients with arachnodactyly, three of whom are in the same family, a father and two daughters. It is our purpose to outline briefly the more characteristic manifestations of this relatively rare anomaly, to mention a few of the more acceptable theories as to its etiology, and to report the essential differential diagnostic features of our cases. It is safe to say that the diagnosis of arachnodactyly can be established in the majority of cases by a hasty survey of the patient as he enters the office, providing the physician is conscious of the essential features of this syndrome. The appearance is absolutely typical. For his age, the patient is tall and awkward looking, with excessively long arms and legs, long, thin, spider-like hands, meager subcutaneous fat, underdeveloped atonic musculature, and often ectopia lentis. The degree of emaciation present accentuates the bony landmarks, and these, in turn, serve to emphasize the disproportionate increase in the length of the extremities as compared to the trunk. Attention is immediately focused on the delicately elongated, spider-like fingers, which are sufficiently characteristic to give this syndrome its name. The appearance of the unusually thin and tapered hand is the result of a deficiency of the surrounding soft parts and a considerable increase in length, without a corresponding increase in diameter, of the metacarpal and phalangeal bones. The relaxed and elongated ligaments, with resultant hypermotility, yet normal efficiency of the joints, permit the patient to perform all sorts of armchair gymnastics (Fig. 1). The feet and toes are likewise long and slender. Deformities of the joints are common. Pes planus, contractures, hammer toes, webbing, and sometimes abnormally mobile patellae occur. The frequently associated scoliosis, kyphosis, winged scapula, and deformities of the sternum are considered to be the result of the laxity of the ligaments and atonic musculature, with resultant inadequate support for proper posture. The skull of the arachnodactylic patient tends to be dolichocephalic in contour, with prominent supra-orbital ridges, frontal bossing, a pointed chin, and either a prominent or broad, somewhat flattened nose.