{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T21:29:29Z","timestamp":1787606969363,"version":"build-2736575974"},"reference-count":13,"publisher":"Scientific Foundation Spiroski (publications)","issue":"3","license":[{"start":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:00:00Z","timestamp":1520553600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Open Access Maced J Med Sci"],"abstract":"<jats:p>BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects.CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial disfigurement. There was no significant prenatal history, and family history was negative for congenital disabilities and genetic disorders. Clinical examination revealed macrocephaly and special facial features as prominent forehead, deformed ear pinna, hypertelorism, flat nasal tongue tie, deficient malar bone, bow-shaped upper and lower lips and dimpled chin. Orally the patient suffered from tonetie, gingival hypertrophy and dental malalignment. The orthopantomogram showed multiple impacted teeth. The physical examination revealed that the patient had deformed spine, short limbs with ectrodactyly, micropenis &amp; hypospadias. Surgical management included correction of midface deficiency with zygomatic augmentation, closed rhinoplasty for the broad nose, lips muscles release and tongue tie relief. The patient is currently undergoing orthodontic treatment for his teeth.CONCLUSION: Improvement of facial features and a good psychological impact on the patient and his family.<\/jats:p>","DOI":"10.3889\/oamjms.2018.129","type":"journal-article","created":{"date-parts":[[2018,3,16]],"date-time":"2018-03-16T12:37:46Z","timestamp":1521203866000},"page":"536-539","source":"Crossref","is-referenced-by-count":4,"title":["Surgical Management of Facial Features of Robinow Syndrome: A Case Report"],"prefix":"10.3889","volume":"6","author":[{"given":"Aida M.","family":"Mossaad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moustapha A.","family":"Abdelrahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa A.","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatem H.","family":"Al Ahmady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"52292","published-online":{"date-parts":[[2018,3,9]]},"reference":[{"key":"43729","doi-asserted-by":"crossref","unstructured":"Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child. 1969; 117: 645.https:\/\/doi.org\/10.1001\/archpedi.1969.02100030647005","DOI":"10.1001\/archpedi.1969.02100030647005"},{"key":"43730","doi-asserted-by":"crossref","unstructured":"Daniella F, Ivete P. Orofacial manifestations of Robinow's Syndrome: a case report in a pediatric patient. J Oral Surg, Oral Med, Oral Path, Oral Radiol. 2008; 105: 353. https:\/\/doi.org\/10.1016\/j.tripleo.2007.05.032 PMid:18061493","DOI":"10.1016\/j.tripleo.2007.05.032"},{"key":"43731","doi-asserted-by":"crossref","unstructured":"Patton M, Afzal A. Robinow Syndrome Journal of Medical Genetics. 2002; 39: 305. https:\/\/doi.org\/10.1136\/jmg.39.5.305 PMid:12011143 PMCid:PMC1735132","DOI":"10.1136\/jmg.39.5.305"},{"key":"43732","unstructured":"Robinow M. Robinow syndrome. In: Buyse ML, editor. Birth Defects Encyclopedia. Massachusettes: Blackwell scientific publications, 1990: 1499-1500."},{"key":"43733","doi-asserted-by":"crossref","unstructured":"Soman C, Lingappa A, Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent. 2015; 8: 149. https:\/\/doi.org\/10.5005\/jp-journals-10005-1303 PMid:26379386 PMCid:PMC4562051","DOI":"10.5005\/jp-journals-10005-1303"},{"key":"43734","unstructured":"Wang LY, Hsu CH, Shih SL, Lin SP. Robinow syndrome: report of one case. 1997; 38:235."},{"key":"43735","doi-asserted-by":"crossref","unstructured":"Van Bokhoven H, Celli J, Kayserili H, van Beusekom E. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics. 2000; 25: 423. https:\/\/doi.org\/10.1038\/78113 PMid:10932187","DOI":"10.1038\/78113"},{"key":"43736","unstructured":"Hosalkar HS, Gerardi J, Shaw BA. Robinow syndrome. J Postgrad Med. 2002; 48: 50. PMid:12082331"},{"key":"43737","unstructured":"Eronat N, Cogulu D, Ozkinay F. A case report on an autosomal recessive Robinow syndrome. Eur J Paediatric Dent. 2009; 10: 147. PMid:19761290"},{"key":"43738","unstructured":"Grothe R, Anderson-Cermin C, Beiraghi S. Autosomal recessive Robinow syndrome: a case report. J Dent Child. 2008; 75:48."},{"key":"43739","doi-asserted-by":"crossref","unstructured":"Castells S, Chakurkar A, Qazi Q, Bastian W. Robinow syndrome with growth hormone deficiency: treatment with growth hormone. J Pediatr Endocrinol Metab. 1999; 12: 565. https:\/\/doi.org\/10.1515\/JPEM.1999.12.4.565 PMid:10417975","DOI":"10.1515\/JPEM.1999.12.4.565"},{"key":"43740","doi-asserted-by":"crossref","unstructured":"Soliman AT, Rajab A, Alsalmi I, Bedair SM. Recessive Robinow syndrome: with emphasis on endocrine functions. Metabolism. 1998; 47:1337. https:\/\/doi.org\/10.1016\/S0026-0495(98)90301-8","DOI":"10.1016\/S0026-0495(98)90301-8"},{"key":"43741","doi-asserted-by":"crossref","unstructured":"Patton M, Afzal A. 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