A syndrome of microcephaly, mental retardation, dwarfism, bilateral cataracts and multiple epiphyseal dysplasia.
- R. B. Lowry, B. J. Wood:
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.
Clinical Genetics, Copenhagen, 1975, 8: 269-274.
Lowry and wood described this combination in 2 brothers. The older brother was mildly retarded
- R. B. Lowry, R. MacLean, D. MacLean, B. Tischler:
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.
Journal of Pediatrics, St. Louis, 1971, 79: 282-284.
Lowry et al described brother and sister with cataract, microcephaly, arthrogryposis, and kyphosis.
- R. B. Lowry, B. J. Wood, T. A. Cox, M. R. Hayden:
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
The American Journal of Medical Genetics, New York, 1989, 33: 341-345.
- A. Czeizel, R. B. Lowry:
Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs.
Acta paediatrica Hungarica, Budapest, 1990, 30: 343-349.