For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
36
views
11
references
 Top references
cited by
0
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      35
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Robinow syndrome

      case-report
      Author(s):
      Publication date (Print):
      Journal: Indian Journal of Orthopaedics
      Publisher: Medknow Publications
      Keywords: Dwarfism, Robinow syndrome, scoliosis

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical “fetal facies” appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

          Related collections

          Most cited references11

          • Record: found
          • Abstract: found
          • Article: not found

          Common autosomal recessive diseases in Oman derived from a hospital-based registry.

          Khalfan Mohammed, B Bappal, Mariam A. Rajab … (2004)
          The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services. Analysis of the years 1993-2002 using a hospital-based registry of genetic diseases was attempted. More than 3,000 records were reviewed. Only patients with definite diagnosis were included in the analysis. Genetically determined diseases occurring less frequently than 1 in 50,000 births are not included. A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths. The data suggest that genetic diseases are important as major contributors to perinatal and childhood mortality and morbidity. The need for preventive genetic service is essential for the health of the community in Oman. Autosomal recessive diseases were frequently concentrated in specific geographical areas, which can be explained by founder effect and genetic drift. However, the hospital-based registry may present incomplete information. Further prospective studies are needed to provide more detailed data.
          Article 0 comments Cited 14 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Robinow syndrome.

            Stephanie M Patton, Nadeem Afzal (2002)
            In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.
            Article 0 comments Cited 12 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Recessive Robinow syndrome: with emphasis on endocrine functions.

              Mariam A. Rajab, Nada Soliman, S Bedair … (1998)
              We present the characteristic features of 14 children with the recessive form of Robinow syndrome and the growth hormone (GH) response to provocation with clonidine and the serum insulin-like growth factor-I (IGF-I) concentration in 12 of these children. The gonadotropin (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) response to gonadotropin-releasing hormone (GnRH) was evaluated in early pubertal and pubertal patients, and the testosterone response to human chorionic gonadotropin (HCG) was evaluated in males. Children with Robinow syndrome, born at full-term, were short at birth (length, 41.4+/-2.1 cm) and had markedly slow growth velocity (GV) during the first year (13.1+/-2.1 cm/yr); consequently, they were significantly short at the end of the first year of life (length, 54.4+/-2.9 cm). This intrauterine and early extrauterine growth delay reflected low growth potential. During childhood, the GV standard deviation score (GVSDS) remained low (-2.17+/-0.83). Despite the presence of empty sella in all of the patients, they had an adequate GH response to clonidine provocation (peak, 19.3+/-5.8 microg/L) and a normal serum IGF-I concentration (309+/-142 ng/mL) for their age. During childhood and early adolescence, boys with Robinow syndrome had low basal testosterone and a low testosterone response to HCG stimulation (3,000 IU/m2/d intramuscularly [IM] for 3 days). However, their basal and GnRH-stimulated FSH concentrations were normal. Two girls (Tanner II breast development) had a normal serum estradiol (E2) concentration but high LH and FSH responses to GnRH stimulation. This suggested either defective feedback of E2 on the hypothalamic-pituitary axis or hyporesponsiveness of the ovaries to gonadotropin. Four weeks of HCG therapy (2,500 IU/m2 IM twice weekly) in three boys with Robinow syndrome increased the penile length and testicular volume, denoting a significant Leydig cell response to prolonged HCG stimulation and the presence of functioning androgen receptors. It is suggested that HCG and/or testosterone therapy during infancy may improve the severe micropenis in these patients.
              Article 0 comments Cited 7 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Orthop
                Journal ID (publisher-id): IJO
                Title: Indian Journal of Orthopaedics
                Publisher: Medknow Publications (India )
                ISSN (Print): 0019-5413
                ISSN (Electronic): 1998-3727
                Publication date (Print): Oct-Dec 2008
                Volume: 42
                Issue: 4
                Pages: 474-476
                Affiliations
                Department of Orthopaedics Ibri Regional Referral Hospital, Ibri, Sultanate of Oman
                Author notes
                Correspondence: Dr. SS Suresh, PO Box 396, Ibri 516, Sultanate of Oman. E-mail: dr.s.s.suresh@ 123456gmail.com
                Article
                Publisher ID: IJO-42-474
                DOI: 10.4103/0019-5413.43399
                PMC ID: 2740345
                PubMed ID: 19753239
                SO-VID: 141410a6-9d7e-416f-976d-d1403dc6dc2d
                Copyright © © Indian Journal of Orthopaedics
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Orthopedics
                Keywords: scoliosis,dwarfism,robinow syndrome
                Data availability:
                ScienceOpen disciplines: Orthopedics
                Keywords: scoliosis, dwarfism, robinow syndrome

                Comments

                Comment on this article