The Cerebro‐Oculo‐Facio‐Skeletal syndrome
- 23 April 1974
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 5 (4) , 294-297
- https://doi.org/10.1111/j.1399-0004.1974.tb01696.x
Abstract
A patient with the Cerebro‐Oculo‐Facio‐Skeletal syndrome is described. The phenotype of the syndrome has been extended somewhat and autosomal recessive inheritance further supported by the finding of parental consanguinity.This publication has 5 references indexed in Scilit:
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- A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and earsTeratology, 1974
- Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne's syndromeThe Journal of Pediatrics, 1973
- Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndromeThe Journal of Pediatrics, 1971
- Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeksPublished by Elsevier ,1969