Silverman-Handmaker syndrome (Frederic N. Silverman)
A lethal form of chondrodysplasia characterised by anarchic ossification of vertebrae, camptomelia and micromelia. Associeated anomalies include cephalocele, mid-facial defects, small orbits, cleft palate, short neck, elongated scapulae, abnormal size, shape and ossification of the acromion, coracoid process, and body of the scapulae, cardiac defects, and hydronephrosis. Patients of Hispanic origin are heavily represented. Inheritance is probably autosomal recessive. 20 cases have been reported since 1969.
Rolland-Desbuquois syndrome is a less severe form. See under J. C. Rolland, French physician.
- F. N. Silverman:
Forms of dysostotic dwarfism of uncertain classification.
Annales de radiologie, Paris, 1969, 12: 1005-1006.
- J. C. Rolland, J. Laugier, B. Grenier, G. Desbuquois:
Nanisme chondrodystropphique et division palatine chez un nouveau-né.
Annales de pédiatrie, Paris, 1972, 19: 139-143.
- S. R. Handmaker, L. D. Robinson, J. A. Campbell, O. Chinwah, R. J. Gorlin:
Dyssegmental dwarfism; a new syndrome of lethal dwarfism.
Birth Defects Original Article Series, New York, XIII, 1977, 3D: 79-90.
- S. Fasanelli, et al:
Dyssegmental dysplasia (Report of two cases with a review of the literature).
Skeletal Radiology, Berlin, 1985, 14: 173-177.