KBG syndrome presenting with brachydactyly type E

Renata Libianto; Kathy Hc Wu; Sophie Devery; John A Eisman; Jackie R Center

doi:10.1016/j.bone.2019.03.012

KBG syndrome presenting with brachydactyly type E

Bone. 2019 Jun:123:18-22. doi: 10.1016/j.bone.2019.03.012. Epub 2019 Mar 12.

Authors

Renata Libianto¹, Kathy Hc Wu², Sophie Devery³, John A Eisman⁴, Jackie R Center⁴

Affiliations

¹ Bone Division, Garvan Institute of Medical Research, Sydney, Australia; Department of Endocrinology, St Vincent's Hospital Sydney, Australia; Department of Medicine, The University of Melbourne, Australia. Electronic address: renata.libianto@monash.edu.
² Clinical Genomics Unit, St Vincent's Hospital Sydney, Australia; Discipline of Genetic Medicine, University of Sydney, Australia; School of Medicine, UNSW, Sydney, Australia; Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, Australia.
³ Clinical Genomics Unit, St Vincent's Hospital Sydney, Australia.
⁴ Bone Division, Garvan Institute of Medical Research, Sydney, Australia; Department of Endocrinology, St Vincent's Hospital Sydney, Australia; School of Medicine, UNSW, Sydney, Australia; School of Medicine Sydney, University of Notre Dame, Australia.

PMID: 30877071
DOI: 10.1016/j.bone.2019.03.012

Abstract

We report the case of a young woman who presented at age 10 years 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.

Keywords: ANKRD11 gene; Brachydactyly type E; KBG syndrome; Skeletal disorder.

Publication types

Review

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology*
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / pathology*
Brachydactyly / genetics*
Brachydactyly / pathology*
Facies
Female
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology*
Karyotype
Mutation / genetics
Repressor Proteins / genetics
Tooth Abnormalities / genetics*
Tooth Abnormalities / pathology*
Whole Genome Sequencing

Substances

ANKRD11 protein, human
Repressor Proteins

Supplementary concepts

Brachydactyly, Type E
KBG syndrome