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Første danske patient med et genkendeligt genetisk KBG-syndrom

Forfattere
Allan Bayat1, Lisbeth Birk Møller2 & Tina Duelund Hjortshøj3 1) Børneafdelingen, Hvidovre Hospital 2) Medicinsk Genetisk Laboratorium, Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet 3) Genetisk Rådgivningsklinik, Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet Ugeskr Læger 2018;180:V11170848
Reference: 
Ugeskr Læger 2018;180:V11170848
Sidetal: 
2-3
The first Danish patient with a recognisable genetic KBG syndrome
KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and intellectual disability. This is a case report of a seven-year-old boy, who presented with symptoms fulfilling the diagnostic criteria of KBG syndrome, molecularly confirmed by detection of a heterozygous mutation in ANKRD11. To our knowledge, this is the first patient diagnosed with KBG syndrome in Denmark. The aim of this study is to raise awareness of this recognisable syndrome.

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