Roberts syndrome or “X‐linked amelia”?
- 1 December 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (4) , 569-572
- https://doi.org/10.1002/ajmg.1320370430
Abstract
We report on a syndrome of tetra‐amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, “X‐linked amelia” is proposed.Keywords
This publication has 11 references indexed in Scilit:
- The Roberts syndromeClinical Genetics, 2008
- Roberts syndrome and SC phocomelia. A single genetic entityClinical Genetics, 1987
- Tetra-amelia with multiple malformations in six male fetuses of one kindredEuropean Journal of Pediatrics, 1985
- Roberts syndrome: clinical and cytogenetic aspectsJournal of Medical Genetics, 1982
- Four siblings with Robert's syndromeClinical Genetics, 1982
- The SC phocomelia and the Roberts syndrome: Nosologic aspectsEuropean Journal of Nuclear Medicine and Molecular Imaging, 1977
- The Tetraphocomelia-cleft palate syndromeHuman Genetics, 1975
- Die sogenannte Phokomelie1Deutsche Medizinische Wochenschrift (1946), 1937
- Über einen Fall von PhokomelieDeutsche Medizinische Wochenschrift (1946), 1936
- Eine seltene menschliche Mißbildung und ihre Bedeutung für die EntwicklungsgeschichteVirchows Archiv, 1908