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. 2008 Oct;42(4):474-6.
doi: 10.4103/0019-5413.43399.

Robinow syndrome

Ss Suresh  1
Affiliations

Robinow syndrome

Ss Suresh. Indian J Orthop. 2008 Oct.

Abstract

Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

Keywords: Dwarfism; Robinow syndrome; scoliosis.

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Conflict of interest statement

Conflict of Interest: None.

Figures

Figure 1
Figure 1
Case 1 (a) Facial features of Robinow syndrome showing broad forehead, hypertelorism, and broad and upturned nose. (b) Profile of patient showing normal upper arm, elbow deformity, and short forearm. (c) Anteroposterior X-ray of forearm with elbow showing dislocated radial head, bowed radius, and hypoplastic ulna (noted bilaterally). (d) Chest X-ray film showing rib anomaly (white arrow), hemivertebrae (white arrows), and block vertebra (bold arrow)
Figure 2
Figure 2
Case 2 (a) Dorsal spine X-ray film showing scoliosis, block vertebrae and hemivertebrae. (b) Skull X-ray film showing crowded teeth
See this image and copyright information in PMC

References

    1. Patton MA, Afzal AR. Robinow syndrome. J Med Genet. 2002;39:305–10. - PMC - PubMed
    1. Kulkarni ML, Reddy S. Images in clinical practice: Robinow Syndrome. Indian Pediatr. 2004;41:89. - PubMed
    1. Centre for Arab Genomic Studies. Robinow syndrome, Autosomal Recessive. Available from: http://www.cags.ae.org.
    1. Hosalkar HS, Shaw GJ. Robinow syndrome. J Postgrad Med. 2002;48:50–1. - PubMed
    1. Afzal RA, Rajab A, Fenske CD, Oldridge M, Elanko N, Periera ET, et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000;25:419–22. - PubMed

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