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Case Studies | Pediatrics and Child Health | India | Volume 13 Issue 5, May 2024 | Rating: 5.1 / 10

Case Study on Rare Disease: Liberfarb Syndrome

Dr. Pankti Shah | Dr. Ankur Patel | Dr. Khushbu Chaudhari ^[2] | Dr. Kirti Mehta ^[2]

Abstract: Liberfarb Syndrome is a type of Spondyloepimetaphyseal Dysplasia involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyper lordosis. Severe joint laxity results in dislocation of elbows, hips, and knees. Eye findings are consistent with early - onset retinal degeneration, and there is moderate to severe early - onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficit. Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome.

Keywords: Liberfarb Syndrome, Spondyloepimetaphyseal dysplasia, short stature, Microcephaly

Edition: Volume 13 Issue 5, May 2024,

Pages: 1530 - 1532