Handbook of congenital malformations / edited by Alan Rubin.

Date:
1967
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Handbook of congenital malformations / edited by Alan Rubin. Source: Wellcome Collection.

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    ECTRODACTYLY {confínued) Treatment and Outlook: Amputation of extra or useless fingers. Disability is dependent upon severity. Reference: Frantz, C. H., and O'Rahilly, R.: Congenital skeletal limb deficiencies. J. Bone & Joint Surg. 43-A: 1202, 1961. EHLERS-DANLOS SYNDROME (Hyperelastosis Cutis, Cutis Hyperelastica). Hyperlaxity and hyperextensibility of joints, hyperelasticity and hyperlaxity of skin, friability and fragility of skin and blood vessels, with breaking, splitting and formation of hematomas and pseudo¬ tumors subsequent to slightest trauma. Skin is soft, velvety and thin; it bruises easily. Following injury wounds tend to gap; sutures tear out. Linear wrinkled scarring of forehead is diagnostically significant. Sometimes seen with severe gastrointestinal hemorrhage. These are the India rubber men of circuses. Many incomplete forms exist. Underlying defect is probably in collagen, the wickerwork of connec¬ tive tissue bundles being abnormally loose. Distinguish from cutis laxa (see p. 263), in which skin hangs in folds. Incidence: Very rare. Over 100 cases described. Associated Anomalies: Widely spaced prominent eyes and epi- canthic folds. Blue sclerae are common. Cardiovascular defects (dis¬ secting aneurysm of aorta, sinus of Valsalva aneurysms, atrioseptal defect and anomalies of pulmonary arteries) and anomalies of lungs, kidneys, teeth, bones and eyes have been recorded. Ocular findings are variable. The sclera may appear bluish because of the visibility of the uveal tissue through the defective collagen fibers. Marked thin¬ ning in the central portion of the corneas results in keratoconus de¬ velopment. Subluxation of the lens occurs from relaxed zonular fibers. Angioid streaks in the retina arise from degeneration of Bruch's mem¬ brane. Other eye findings include microcorneas, ptosis, strabismus, flat nasal bridge, hypertelorism, defects of the lacrimal apparatus, epi- canthal folds and glaucoma. Hereditary Factors: Dominant with variable expressivity. Some members of families have all characteristics of the syndrome; others may have one or two characteristics in mild form. Treatment and Outlook: Prognosis is poor. Treatment is usually limited to protection from injury. Pressure bandages over hematomas to prevent tumor formation. Correction of cardiovascular malforma¬ tion occasionally, if feasible. References: Bruno, M. S., and Narasimhan, P.: The Ehlers- Danlos syndrome: a report of four cases in two generations of a Negro family. New England J. Med. 2^4:274,1961. Johnson, S. A. M., and Falls, H. F.: Ehlers-Danlos syndrome. A clinical and genetic study. Arch. Dermat. & Syph. 60:82, 1949. McKusick, V. A.: Heritable Disorders of Connective Tissue. 3rd Ed. St. Louis, The C. V. Mosby Co., 1966, pp. 179-229. With Elsa Kertesz Rahn and Harold G. Scheie 61