Erdal EREN, Halil SAĞLAM, Zeynep YAZICI, Gökhan GÖKALP

Robinow sendromu

Giriş: Robinow sendromu, kol ve bacaklarda kısalığın olduğu cücelik, vertebral malsegmentasyon/malformasyon (hemivertebra), kosta displazisi, genital hipoplazi ve fötal yüz görünümü (geniş ve belirgin ön kafa, hipertelorizm, küçük geniş burun, molar hipoplazi, retrognati) ile karakterize bir sendromdur. Hafif otozomal dominant ve şiddetli resesif formlarının tanımlandığı nadir görülen genetik bir hastalıktır. Vertebra ve kosta anormallikleri sıktır, tanısaldır ve şiddetli olabilir. Kifoskolyoz ve göğüs anomalileri, torasik vertebralarda füzyon ve hemivertebra görünümleri vardır. Kostalarda füzyon görülebilir. Bu tutulumlara göre hastalık, spondilotorasik, spondilokostal, iskiovertebral displazi ve servikofasiotorasik sendrom olarak gruplandırılabilir. Tanı klinik özelliklere göre konulmaktadır. Radyolojik inceleme, iskelet sistemindeki değişikliklerle tanıya yardımcı olmaktadır. Olgu Sunumu: Üç yaşındaki erkek olgu opere sol inmemiş testis ve gömülü penis nedeniyle başvurdu. Fizik muayenesinde ek olarak makrosefali, hipertelorizm, belirgin gözler, basık burun kökü, üçgen-balık ağız ve gingival hipertrofi ile karakterize dismorfik yüz görünümü ve sol elde klinodaktili vardı. Radyografik incelemede radius ve ulnada mezomelik kısalık, torakal vertebrada malsegmentasyon ve kostalarda füzyon görüldü. Tartışma: Robinow sendromu, nadir görülen, tipik yüz görünümü ve radyolojik bulgularıyla tanısı konulabilen bir sendromdur.

Robinow syndrome

Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome. Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion. Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings.

PDF

___

1. Al Kaissi A, Bieganski T, Baranska D, Chehida FB, Gharbi H, Ghachem MB et al. Robinow syndrome: report of two cases and review of the literature. Australas Radiol 2007;51:83-6.
2. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child 1969;117:645-51.
3. Teebi AS. Autosomal recessive Robinow syndrome. Am J Med Genet 1990;35:64-8.
4. Kantaputra PN, Gorlin RJ, Ukarapol N, Unachak K, Sudasna J. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. Am J Med Genet 1999;84:1-7.
5. Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A 2007;143:320-5.
6. Kulkarni ML, Reddy S. Robinow syndrome. Indian Pediatr 2004; 41:89.
7. Butler MG, Wadlington WB. Robinow syndrome: report of two patients and review of literature. Clin Genet. 1987;31:77-85.
8. Eronat N, Cogulu D, Ozkinay F.A case report on autosomal recessive Robinow syndrome. Eur J Paediatr Dent 2009;10:147-50.
9. Duran S, Yücelgülçek S, Günaydın E. Sprengel Deformitesi ve Omovertebral Bandın Eşlik Ettiği Klippel-Feil Sendromu. Turkiye Klinikleri J Med Sci 2005;25:118-20.
10. Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet 2007;122:389-95.
11. Patton MA, Afzal AR, Robinow syndrome. J Med Genet 2002;39:305-10.
12. Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Hum Mol Genet 2009;18:4013-21.
13. Minami Y, Oishi I, Endo M, Nishita M. Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases. Dev Dyn 2010;239:1-15.