Skip to main content
SpringerLink
Log in

Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

Robinow syndrome is a rare entity with a characteristic appearance, such as hypertelorism, short stature, mesomelic shortening of the limbs, hypoplastic genitalia, and rib as well as vertebral anomalies. We had treated a patient with Robinow syndrome who developed hydrocephalus and craniosynostosis which is not usually associated.

Case presentation

The ventricle enlargement was detected during pregnancy in a female infant. She did not develop hydrocephalus just after birth. Her facial appearance was fetus-like, so the pediatricians had suspected Robinow syndrome. During follow-up examinations, a rapidly enlarging head circumference was detected when she was 3 months old. Her conscious level was not disturbed, but she had a tight fontanel and sunset phenomenon was recognized. Hydrocephalus was diagnosed by radiographic imaging so that she underwent ventriculo-peritoneal shunting (VPS). Her irregular head enlargement seized. Six months after surgery, her parents noticed the brachycephalic shape of her head. A computed tomography (CT) and magnetic resonance (MR) scan were conducted and showed that her bilateral coronal, bilateral lambdoid, and the sagittal suture were fused in addition with a tonsillar herniation. Since the sutures were not remaining, we diagnosed that this was a primary pan synostosis rather than secondary craniosynostosis due to VPS. Posterior cranial vault distraction with foramen magnum decompression (FMD) was conducted. The distractor was extended by 1 mm per day up to 30 mm. After a consolidation period of 2 months, the distractors were removed. Through this intervention, a 15.4% increase (+196cc) of the intracranial space with an improvement of the chronic tonsillar herniation was achieved.

Conclusion

To confirm the diagnosis of Robinow syndrome, a genetic test was conducted. The analysis showed ROR2 Exon3 (c233 c>t p. Thr 78 Met), which is found in the recessive type of Robinow syndrome. We report this patient as, to our best knowledge, the first case documented case of Robinow disease presenting with hydrocephalus and craniosynostosis. Posterior cranial vault distraction with FMD is a useful way to treat this condition.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A 143:320–325

    Article  Google Scholar 

  2. Robinow M, Springs Y, Silverman FN, Smith HD (1969) A newly recognized dwarfing syndrome. Am J Dis Child 117:645–651

    CAS  PubMed  Google Scholar 

  3. Patton MA, Afzal AR (2002) Robinow syndrome. Journal of Medical Genetics 39:305–310

    Article  CAS  Google Scholar 

  4. Thomale UW, Gebert AF, Haberl H, Schulz M (2013) Shunt survival rates by using the adjustable differential pressure valve combined with a gravitational unit (proGAV) in pediatric neurosurgery. Childs Nerv Syst 29:425–431

    Article  Google Scholar 

  5. Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G, Consortium FC, Brunner HG, Chitayat D (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet 87:34–41

    Article  CAS  Google Scholar 

  6. Afzal AR, Jeffery S (2003) One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat 22:1–11

    Article  CAS  Google Scholar 

  7. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 25(4):423–426

  8. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian G, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB (2018) WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. Am J Hum Genet 102:27–43

    Article  CAS  Google Scholar 

  9. Cerqueira DF, de Souza IP (2008) Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105:353–357

    Article  Google Scholar 

  10. Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet 80:15–24

    Article  CAS  Google Scholar 

  11. Golinko MS, Atwood DN, Ocal E (2018) Surgical management of craniosynostosis in the setting of a ventricular shunt: a case series and treatment algorithm. Childs Nerv Syst 34:517–525

    Article  Google Scholar 

  12. Komuro Y, Yanai A, Hayashi A (2004) Treatment of unilateral lambdoid synostosis with cranial distraction. J Craniofac Surg 15:609–613

    Article  Google Scholar 

  13. White N, Evans M, Dover MS, Noons P, Solanki G, Nishikawa H (2009) Posterior calvarial vault expansion using distraction osteogenesis. Childs Nerv Syst 25:231–236

    Article  Google Scholar 

  14. Komuro Y, Shimizu A, Ueda A, Miyajima M, Nakanishi H, Arai H (2011) Whole cranial vault expansion by continual occipital and fronto-orbital distraction in syndromic craniosynostosis. J Craniofac Surg 22:269–272

    Article  Google Scholar 

  15. Komuro Y, Shimizu A, Shimoji K, Miyajima M, Arai H (2015) Posterior cranial vault distraction osteogenesis with barrel stave osteotomy in the treatment of craniosynostosis. Neurol Med Chir (Tokyo) 55:617–623

    Article  Google Scholar 

  16. Senda D, Orgun D, Shimizu A, Shimoji K, Miyajima M, Arai H, Mizuno H, Komuro Y (2019) Quantitative analysis of change in intracranial volume after posterior cranial vault distraction and frontal orbital advancement/remodeling. J Craniofac Surg 30:23–27

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan

    Koichiro Sakamoto & Kazuaki Shimoji

  2. Department of Plastic Surgery, Juntendo University School of Medicine, Tokyo, Japan

    Daiki Senda

  3. University of Bern, Bern, Switzerland

    Sandro von Däniken

  4. Medical University of Vienna, Vienna, Austria

    Bedirhan Boztepe

  5. Department of Plastic Surgery, Teikyo University School of Medicine, Tokyo, Japan

    Yuzo Komuro

  6. Department of Neurosurgery, International University of Health and Welfare, Chiba, Japan

    Kazuaki Shimoji

Authors
  1. Koichiro Sakamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Daiki Senda
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sandro von Däniken
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bedirhan Boztepe
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yuzo Komuro
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Kazuaki Shimoji
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Koichiro Sakamoto.

Ethics declarations

Conflict of interest

The authors have no conflicts of interest related to the paper herein discussed.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sakamoto, K., Senda, D., von Däniken, S. et al. Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis. Childs Nerv Syst 37, 3235–3239 (2021). https://doi.org/10.1007/s00381-021-05087-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-021-05087-x

Keywords

Search

Navigation