Abstracts Of Selected Articles
(The following abstracts from the October 1965 issue of Birth Defects is reprinted with the permission of the National Foundation - March of Dimes.)
Congenital Absence Of The Fibula: Treatment By Syme Amputation -Indications And Technique.
J. Bone Joint Sur. (Amer.) 47-A(6): 1159-1169, Sept. 1965.
Wood. W. L.. Zlotsky. N. and Westin. G. W. (Shriners' Hosp. Crippled Children, 3617 E. Century Boul., Lynwood, California 90263.)
The classification is reviewed. Altogether 21 patients with 25 limbs were seen including 18 limbs with complete terminal paraxial hemimelia, 2 with incomplete terminal paraxial fibular hemimelia, and 5 with complete intercalary paraxial fibular hemimelia.
General aims and types of treatment are discussed as is the determination of leg lengths and predictions of limb shortening.
The Syme amputation is considered the procedure of choice in children in whom the length discrepancy is three inches or more, or in whom the foot cannot be maintained in a weight-bearing position, or in whom repeated hospitalizations are contraindicated, or for cosmetic reasons.
The technique is described. There are two case histories. (10 references.)
Ectr0Dactyly. Singapore Med. J. 6(2)110-115, June 1965.
Pillav, V. K. (Dept. Orthopaedic Surg., Univ. Singapore, Malaysia.)
A pedigree is reported in which the first generation was normal. The father had married twice and the children and grandchildren of one wife were normal. The second wife had two affected sons, three normal sons and a normal daughter. One of the affected sons had three affected daughters of nine children. The other had one affected son of three children. Varying degrees of expression were seen in the six affected family members.
A second family is also noted in which there was one affected male child.
The findings are interpreted to be the result of a double mutation in the first pedigree. (11 references.)
Improving Parent Care Of Handicapped Children.
Children 12(5):185-188, Sept.-Oct. 1965.
Green, M. and Durocher, M. A. L. (Indiana Univ. Med. Center, Indianapolis.)
The authors emphasize the importance of support for the parents of the handicapped child and their education so that they are better able to help in the education of the child. An illustrative program is described in which the advice is interdisciplinary coming from that person best able to assist in the immediate problem. There are also special background materials and a lecture program. (6 references.)
The Upper Limb-Cardiovascular Syndrome: An Autosomal Dominant Genetic Effect On Embryogenesis.
J.A.M.A. 193(13): 1080-1086, Sept. 27, 1965.
Lewis, K. B. et al. (Dept. Med., Johns Hopkins Hosp., Baltimore, Maryland.)
The pedigree of a family is given for which there were 18 affected members in three generations. The findings in various members of the family are presented.
Among the cardiovascular anomalies found, atrial septal defect was most frequent; others included ventricular septal defect, anomalous coronary artery, retroesophageal right subclavian artery, transposition of the great vessels, and undiagnosed congenital heart disease.
The most frequent deformity of the upper limbs was absence or hypoplasia of the thumbs; other defects included phocomelia, pectus excavatum, shortened clavicles, and various deformities of the arms.
Both this family and those reported in the literature suggest an autosomal dominant form of inheritance with variable expression. The association of lesions in two systems suggests that the mutant gene acts at the fifth week of embryogenes is. (20 references . )