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INVITED AND SPECIAL SESSIONS To be posted on poster board 2181/F. REPLACED BY Autosomal recessiverobinow syndrome is caused by homozygous mutations in ROR2 . http://www.faseb.org/genetics/ashg/ann-meet/2000-supp/2000-sess-34.htm
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Robinow Syndrome robinow syndrome. SK Singh*, SK Bhadada*, R Singh**, SK Sinha*, SK Singh***,JK Agrawal****. Abstract. robinow syndrome is a rare congenital abnormality. http://www.japi.org/august2000/c-Robinow Syndrome.htm
Extractions: Case Report Robinow Syndrome SK Singh*, SK Bhadada*, R Singh**, SK Sinha*, SK Singh***, JK Agrawal**** *Senior Resident, **Junior Resident, Department of Pediatrics; ***Reader; ****Professor, Department of Endocrinology and Metabolism, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005. Received : 2.2.1999; Revised : 7.9.1999; Accepted : 8.1.2000 Abstract Robinow syndrome is a rare congenital abnormality. It is characterized by mesomelic brachymelia, hemivertebrae, dysmorphic facies, genital hypoplasia, micropenis, clinodactyly, camptodactly, hypoplastic nails and moderate short stature. We are documenting the case on the account of its rarity and additional features. (JAPI 2000; 48 : 836-837)
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Extractions: Medical Genetics Unit, St Georges Hospital Medical School, London Human Genetics Department, National Research Centre, Cairo, Egypt. The Autosomal Recessive form of Robinow syndrome (RRS) is a severe skeletal dysplasia with generalised limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. Previously we mapped and identified the gene mutated in RRS, and this is ROR2, located on chromosome 9q22. ROR2 encodes an orphan receptor tyrosine kinase and mutations in this gene are also responsible for brachydactyly type B, which is an autosomal dominant condition. We studied different probands from consanguineous families and found homozygous missense mutations and also a nonsense mutation in this gene in these patients. In the present study we present new mutations identified in this gene and discuss the possible mechanism by which these mutations cause autosomal recessive Robinow syndrome.
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