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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    ARACHNODACTYLY (continued) Prevalence: 2 in 100,000. Hereditary Factors: Probable dominant with variable expression. Treatment and Outlook: Orthopedic treatment usually confined to the scoliosis which requires correction by casts or braces followed by spinal fusion in curves which are increasing. Serial roentgenograms should be employed to follow the cause of the developing scoliosis. After completion of spinal growth no further increase of the curve will occur. The aortic aneurysm and insufficiency may be partially corrected surgically, but operative risk is great and results are poor. Subluxated lens is extracted surgically when indicated. Fatal cardio¬ vascular complications, such as myocardial insufficiency or dissecting aneurysm of the aorta, are common in middle life. Average age at death in males is 43 years, in females 46. Reference: McKusick, V.; Heritable Disorders of Connective Tissue. 2nd edition, C. V. Mosby Co., 1960, St. Louis. Mitoma, C., et al.: Improvements in methods of meas¬ uring hydroxyproline. J. Lab. and Clin. Med. 55:970, 1959. With Elsa Kertesz Rahn and Harold G. Scheie ARTHROGRYPOSIS MULTIPLEX CONGENITA (Amyoplasia Congenita, Myodystrophia Fetalis). Muscle fibers are infiltrated and replaced with fibrous and fatty tissue. Joints become rigid. Absence of muscle causes a fusiform appearance of extremities with knees and elbows fixed in flexion; elbows and knees may be webbed. Spine is rarely involved. All extremities or one or more may be involved. Prevalence: Rare. About 100 cases reported. Probably more males affected than females. Associated Anomalies: Mental retardation, webbing of fingers, facial hemangioma, cleft lip, cleft palate. Hereditary Factors: None apparent. Chick embryos treated with curare develop similar condition. Treatment and Outlook: Soft tissue releases may permit a more functional position of the joints but permanent functional disability is usual and may be severe in those with widespread involvement. Reference: Drachman, D. В., and Coulombre, A. J.: Experi¬ mental clubfoot and arthrogryposis multiplex congenita. Lancet 2:523, 1962. Francois, J., and Matton-van Leuven, M. Th.: Chro¬ mosome abnormalities and ophthalmology. J. Ped. Ophth. 1:5, 1964. Kanof, A., et al.: Arthrogryposis: a clinical and patho¬ logic study of three cases. Pediat. Ì7:532, 1956, Mead, N. G., and Lithgow, W. C.: Arthrogryposis multiplex congenita. J. Bone & Joint Surg. 40-A:1285, 1958. Middleton, D. S.: Studies on prenatal lesions of striated muscle as a cause of congenital deformity. Edinburgh M. J. 41:401,1934. With Elsa Kertesz Rahn and Harold G. Scheie 54