Autosomal recessive Robinow‐like syndrome with anterior chamber cleavage anomalies
- 1 July 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (3) , 709-718
- https://doi.org/10.1002/ajmg.1320300303
Abstract
We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cieavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomaiies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.Keywords
This publication has 10 references indexed in Scilit:
- Peters' Anomaly as a Consequence of Genetic and Nongenetic SyndromesArchives of Ophthalmology (1950), 1986
- Peters'-Plus: A new syndromeOphthalmic Paediatrics and Genetics, 1984
- Male-to-Male Transmission of Robinow's SyndromeAmerican Journal of Diseases of Children, 1982
- Robinow SyndromeClinical Pediatrics, 1979
- Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?Journal of Medical Genetics, 1978
- The Robinow SyndromeAmerican Journal of Diseases of Children, 1975
- Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome)The Journal of Pediatrics, 1974
- Iris dysplasia, orbital hypertelorism, and psychomotor retardation: A dominantly inherited developmental syndromeThe Journal of Pediatrics, 1973
- RIEGER'S SYNDROMEPediatrics, 1969
- The Anterior Chamber Cleavage SyndromeArchives of Ophthalmology (1950), 1966