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International Journal of Recent Trends in Science and Technology, ISSN 2277-2812 E-ISSN: 2249-8109
Volume 12, Issue 1, September 2014 pp 135-136
Laurence moon bardet beidl syndrome
Ajit A. Holkunde1, Anant K. Shingare2, Supriya B. Sakhare3, D.S. Joshi4
1Post-Graduate student, **Assistant Professor, Department of Anatomy, SRTR Government Medical College, Ambajogai-431517, Maharashtra, INDIA.
4Professor and Head, Department of Anatomy, Dr. Shankarrao Chavan Government Medical College, Nanded, Maharashtra, INDIA.
Introduction: A 15 year old female patient was brought by the parents to the Out-Patient department of medicine of our institute, SRTR Medical College on 11th of Nov, 2011. The presenting complaints were- Dyspnoea since 15 days, Fatigue since 15 days. On general examination, it was found that patient was having severe pallor, truncal obesity as well as mental retardation. At the same time, one more characteristic finding was quadrilateral polydactyly. Her systemic examination of CVS and RS was normal. On fundoscopy, positive finding was retinitis pigmentosa. All these clinical signs and symptoms direct us towards the diseases of genetic origin, to be more precise, towards Laurence Moon Bardet Beidl syndrome or Prader-Willi syndrome. Karyotype of this patient may give additional support to the diagnosis.