Robinow syndrome/Robinow sendromu

Citation metadata

Authors: Gokhan Gokalp, Erdal Eren, Zeynep Yazici and Halil Saglam
Date: June 2010
From: The Journal of Current Pediatrics
Publisher: Galenos Yayinevi Tic. Ltd.
Document Type: Case study
Length: 1,629 words

Main content

Abstract :

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. (Journal of Current Pediatrics 2010; 8:44-7) Key words: Robinow, mesomelia, vertebral malsegmentation Giris: Robinow sendromu, kol ve bacaklarda kisaligin oldugu cucelik, vertebral malsegmentasyon/malformasyon (hemivertebra), kosta displazisi, genital hipoplazi ve fotal yuz gorunumu (genis ve belirgin on kafa, hipertelorizm, kucuk genis burun, molar hipoplazi, retrognati) ile karakterize bir sendromdur. Hafif otozomal dominant ve siddetli resesif formlarinin tanimlandigi nadir gorulen genetik bir hastaliktir. Vertebra ve kosta anormallikleri siktir, tanisaldir ve siddetli olabilir. Kifoskolyoz ve gogus anomalileri, torasik vertebralarda fuzyon ve hemivertebra gorunumleri vardir. Kostalarda fuzyon gorulebilir. Bu tutulumlara gore hastalik, spondilotorasik, spondilokostal, iskiovertebral displazi ve servikofasiotorasik sendrom olarak gruplandirilabilir. Tani klinik ozelliklere gore konulmaktadir. Radyolojik inceleme, iskelet sistemindeki degisikliklerle taniya yardimci olmaktadir. Olgu Sunumu: Uc yasindaki erkek olgu opere sol inmemis testis ve gomulu penis nedeniyle basvurdu. Fizik muayenesinde ek olarak makrosefali, hipertelorizm, belirgin gozler, basik burun koku, ucgen-balik agiz ve gingival hipertrofi ile karakterize dis-morfik yuz gorunumu ve sol elde klinodaktili vardi. Radyografik incelemede radius ve ulnada mezomelik kisalik, torakal vertebrada malsegmentasyon ve kostalarda fuzyon goruldu. Tartisma: Robinow sendromu, nadir gorulen, tipik yuz gorunumu ve radyolojik bulgulariyla tanisi konulabilen bir sendromdur. (Guncel Pediatri 2010; 8:44-7) Anahtar kelimeler: Robinow, mezomeli, vertebral malsegmentasyon

Source Citation

Source Citation
Gokalp, Gokhan, et al. "Robinow syndrome/Robinow sendromu." The Journal of Current Pediatrics, 2010, p. 44+. Accessed 28 Jan. 2021.
  

Gale Document Number: GALE|A227945850