Abstract
A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.
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- Robinow M., Chumlea W. C. Standards for limb bone length ratios in children. Radiology. 1982 May;143(2):433–436. doi: 10.1148/radiology.143.2.7071345. [DOI] [PubMed] [Google Scholar]
- Robinow M., Silverman F. N., Smith H. D. A newly recognized dwarfing syndrome. Am J Dis Child. 1969 Jun;117(6):645–651. doi: 10.1001/archpedi.1969.02100030647005. [DOI] [PubMed] [Google Scholar]
- Shprintzen R. J., Goldberg R. B., Saenger P., Sidoti E. J. Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. Am J Dis Child. 1982 Jul;136(7):594–597. doi: 10.1001/archpedi.1982.03970430026007. [DOI] [PubMed] [Google Scholar]
- Vallée L., Van Nerom P. Y., Ferraz F. G., Delecour M., Maroteaux P., Farriaux J. P., Fontaine G. Syndrome de robinow à transmission dominante. Arch Fr Pediatr. 1982 Aug-Sep;39(7):447–448. [PubMed] [Google Scholar]
- Wadia R. S. Covesdem syndrome. J Med Genet. 1979 Apr;16(2):162–162. doi: 10.1136/jmg.16.2.162. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wadia R. S., Shirole D. B., Dikshit M. S. Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? J Med Genet. 1978 Apr;15(2):123–127. doi: 10.1136/jmg.15.2.123. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wadlington W. B., Tucker V. L., Schimke R. N. Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). Am J Dis Child. 1973 Aug;126(2):202–205. doi: 10.1001/archpedi.1973.02110190176013. [DOI] [PubMed] [Google Scholar]