Grand Rounds

Is it Ehlers Danlos syndrome or Osteogenesis Imperfecta?

Devi Bavishi1, Ira Shah2, Ashok Johari3
1Seth G S Medical College, Mumbai, India, 2Department of Pediatrics, Levioza Health Care, Mumbai, India, 3Department of Paediatric Orthopaedics and Spine Surgery, Children's Orthopedic Centre, Mumbai, India

Address for Correspondence: Devi Bavishi, Seth G S Medical College, Mumbai, India. Email:

Clinical Problem:
A two and a half years old female, born of a non-consanguineous marriage presented in August 2011 with multiple fractures affecting all limbs since the age of nine months. She had 36 fractures till date and her most recent fracture was in July 2011. She had been on bisphosphonates (initially pamidronate 12mg/kg every two months) for the same, but fractures continued. She had received zoledronate in December 2010 following which she developed redness in both eyes which were detected to be endophthalmitis, which gradually progressed to complete loss of vision and retinal detachment in both eyes. There were no similar complaints in other family members. Her mental development was normal but she could not walk due to deformities. Her serial bone mineral densities showed osteopenia. On presentation to us in August 2011, she had deformed bones (knock knees, incurving of both hands and right leg with medial rotation) and bilateral eye phthisis. She had no joint laxity or hearing problems. Her X-ray of the right forearm showed severe incurving of the radius and ulna bones (Figure 1). Based on the clinical presentation, she was clinically suspected to have osteogenesis imperfecta (OI). She was put on vitamin D3 and calcium supplements. After two months, there were no new fractures and she could walk. As her parents were planning to have another child, a molecular test was done which showed heterozygous status for p. (Arg46Cys) (NM_000302.3:c.136C>T) mutation in Exon 2 and p.P692L (NM_000302.3:c.2075C>T) mutation in Exon 19 of PLOD1 gene suggestive of autosomal recessive Ehlers-Danlos Syndrome Type VI.

Figure 1. X-ray of the right forearm showing severe incurving.

Is this osteogenesis imperfecta or Ehlers-Danlos Syndrome type VI?

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