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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    CAMPTODACTYLY (continued) Partial removal of joint capsule may be necessary to get correction. Surgery is best done early before secondary contractures develop. If untreated it may remain static or be slowly progressive. Reference: Birch-Jensen, A.: Congenital Deformities of the Upper Extremities. Copenhagen, Munksgaard, 1949. CHONDROECTODERMAL DYSPLASIA. See Ellis-van Creveld Syn¬ drome, page 62. CHONDRO-OSTEODYSTROPHY (Morquio's Disease or Syndrome). Disorder of epiphyseal cartilage and bone derived from cartilage, resulting in dwarfism, kyphosis, genu valgum and characteristic spinal radiographs showing shallowness of the bodies and an anterior beak or tongue. The epiphyses of long bones are small, irregular and frag¬ mented. Bones of the skull and face are normal. Intelligence is normal and other systems are unaffected. The abnormality may be present at birth but is seldom apparent until walking age. The dwarfism is due chiefiy to loss of spinal growth and the kyphosis. Prevalence: Uncertain. Associated Anomalies: The skeletal changes are similar to those seen in gargoylism (Hurler's disease) but the storage of chondroitin sulfate В and heparin monosulfate seen in the liver, spleen, skeleton and other organs in gargoylism is not found. Morquio-Ullrich disease may be a variant of both of the above conditions in which skeletal changes of Morquio's disease are present with only a few of the extra- skeletal abnormalities. In this condition storage of a keratosulfate may be involved. Hereditary Factors: Autosomal dominant and recessive and sex- linked types have been found. Fairbank (1951) states that of 60 cases known to him, the syndrome was seen in another member of the family in one third. Treatment and Outlook: No specific therapy. When deformities of the long bones are severe, corrective osteotomies may be indicated. When skeletal growth is completed no further deformity occurs but secondary arthritis may occur. Reference: Brailsford, J. F.: Chondro-osteodystrophy, roentgeno- graphic and cHnical features of a child with dislocation of vertebrae. Am. J. Surg. 7:404, 1929. Fairbank, H.: Atlas of General Affections of the Skeleton. Edinburgh, E. & S. Livingstone, 1951. Goidanich, I. F., and Lenzi, L.: Morquio-UUrich dis¬ ease. J. Bone & Joint Surg. 46-A:734, 1964. CLEIDOCRANIAL DYSOSTOSIS (Scheuthauer-Marie-Sainton Syndrome). Defective ossification of cranial bones and aplasia or hypoplasia of 56