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KBG syndrome presenting with brachydactyly type E


We report the case of a young woman who presented at age 10years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and hormonal profiles were normal. Differential diagnoses considered included Albright hereditary osteodystrophy without hormone resistance (a.k.a pseudopseudohypoparathyroidism), 2q37 microdeletion syndrome and acrodysostosis. She had a normal karyotype and normal FISH of 2q37. Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic brachydactyly type E, especially if short stature and developmental delay are also present.

Type Journal
ISBN 1873-2763 (Electronic) 1873-2763 (Linking)
Authors Libianto, R.; Wu, K. H.; Devery, S.; Eisman, J. A.; Center, J. R.
Responsible Garvan Author Prof Jacqueline Center
Publisher Name BONE
Published Date 2019-06-01
Published Volume 123
Published Pages 18-22
Status Published in-print
DOI 10.1016/j.bone.2019.03.012
URL link to publisher's version