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.

    82/424 (page 62)
    ELLIS-VAN CREVELD SYNDROME (Chondroectodermal Dysplasia). Dyschondroplasia, Polydactyly, dysplasia (hypoplasia) of fingernails and teeth, congenital heart disease. Shortening of extremities involves particularly distal portions, unlike classic achondroplasia, in which proximal bones are, relatively speaking, the shortest. The hair is fine, sparse, and friable. There is fusion of upper lip to gingiva. Aplasia or hypoplasia of teeth is common. Dentition is delayed and the teeth are small and cone shaped. Cardiac lesion most often is single atrium. Fusion of capitate and hamate bones pathognomonic. Hypoplasia and ectopia of proximal tibial ossification centers. The ectodermal dys¬ plasia is hydrotic. Prevalence: Very rare. Associated Anomalies: Eye defects and hepatosplenomegaly. Hereditary Factors: Autosomal recessive trait. Most prevalent among the Pennsylvania Dutch folk, particularly the Amish. Treatment and Outlook: Surgical correction of heart defect. Pros¬ thetic replacement of teeth. Patients survive to adulthood with difficulty. Reference: Ellis, R. W. В., and Andrew, J. D.: Chondroectoder¬ mal dysplasia. J. Bone and Joint Surg. 44-B: 626, 1962. Smith, H. L., and Hand, A. M.; Chondroectodermal dysplasia (Ellis-van Creveld syndrome) : report of two cases. Pedi¬ atrics 298, 1958. Walls, W. L., Altman, D. H., and Winslow, O. P.: Chondroectodermal dysplasia (Ellis-van Creveld syndrome). A.M.A. J. Dis. Child. 98:242, 1959. With Thomas Butterworth ENCHONDROMATOSIS (Olller's Disease, Dyschondroplasia). See Dyschondroplasia, page 59. ENGELMANN'S DISEASE (Progressive Diaphyseal Dysplasia). Fusi¬ form enlargement and sclerosis of the shafts of long bones, associated with changes in density of the skull over the frontal and occipital regions and in the petrous portion of the temporal bone. The condi¬ tion is first observed in early childhood and is painful. Patients are thin and tire easily. Prevalence: Uncommon. Associated Anomalies: Puberty may be late and secondary sex characteristics poorly developed. Hereditary Factors: No data available. Treatment and Outlook: No specific treatment. The condition does not advance after completion of growth. Function is not grossly im¬ paired. Reference: Griffiths, D. L.: Engelmann's disease. J. Bone & Joint Surg. 58-5:312,1956. 62