Title: A Hallmark of Progressive Diagnosis: Robinow Syndrome Identified By Clinical and Radiological Examination

Authors: Iraj Alam Khan, Uzma Firdaus, Syed Manazir Ali

 DOI:  http://dx.doi.org/10.18535/jmscr/v3i12.48

Abstract

Robinow syndrome also known as ‘fetal facies’ is a rare inherited disorder characterized by short stature due to mesomelic shortening of limbs, distinctive craniofacial, skeletal and genital abnormalities. It can have both autosomal recessive and autosomal dominant inheritance. The diagnosis depends on good clinical examination and radiological study. Prenatal diagnosis of Robinow syndrome can be made through fetal ultrasound examination. The treatment involves surgery, orthotics and hormone replacement and the prognosis remains reasonably good. Here we present a preterm newborn with typical dysmorphic facies and other congenital abnormalities characteristic of Robinow syndrome.

Keywords: Robinow syndrome, fetal facies, mesomelic limb shortening, hemivertebrae, genital hypoplasia

References

1.      Patton MA, Afzal AR. (2002 ) Robinow syndrome. J Med Genet 39:305-10.

2.      Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child.1969 Jun;117(6):645–651.

3.       Hosalkar HS, J Gerardi J, Shaw BA. (2002)  Robinow syndrome. Images In Medicine: 48 (1 ) : 50-1

4.      Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. (2000) Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet 106:351–4

5.      Afzal AR, Rajab A, Fenske C, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AOM, Jeffery S. (2000) Autosomal recessive Robinow syndrome is allelic to dominant brachydactyly type B and caused by loss of function mutations in ROR2.Nat Genet 25:419–22.

6.      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 25:423-6. (Erratum in Nat Genet 2000;26:383.)

7.      Robinow M. (1993)The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol;2:189–98.

8.      https://rarediseases.org/rare-diseases/robinow-syndrome/

9.      Al-Ata J, Paquet M, Teebi AS. (1998) Congenital heart disease in Robinow syndrome. Am J Med Genet 77:332–3.

10.  Castro S,  Peraza E, Barraza A , Zapata M  (2014) Prenatal diagnosis of robinow syndrome: A case report Journal of Clinical Ultrasound  Jun: 42 (5) : 297–300

11.  Suresh S. (2008) Robinow syndrome.  Indian J Orthop. Oct;42(4):474-6. doi: 10.4103/0019-5413.43399

Corresponding Author

Iraj Alam Khan

Dept of Pediatrics, J.N.Medical College, A. M. U. Aligarh, Uttar Pradesh, India

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Address c/o Ashraf Sardar, Taleem Manzil, Marris Road, Aligarh, Uttar Pradesh, India, 202001