A

 

Au-Kline sendromu

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Kalıtsal - AD

Dolikosefali

Kraniyosinostozis

Yüz uzun

Kulaklarda malformayon

Göz kapak yarıkları uzun ve aşağı çekik

Ptozis

Kaşlar distalde seyrek

Burun yayvan

Ağız açık

Dil buruşuk (skrotal)

Çukur damak

Yarık damak

Oligodonti

Ense derisi kalın

Kalp anomalileri

Toraks anoalileri

Meme uçları açıklığı aşırı

İnmemiş testisler
Ridged metopic suture

Skolyoz

Parmak anomalileri

Psikomotor gerilik

Hipotoni

 

• Au PYB, You J, Caluseriu O, et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Human Mutation, 36: 1009-1014, 2015

• Lange L, Pagnamenta AT, Lise S, et al. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clinical Genetics, 90: 258-262, 2016

• Miyake N, Inaba M, Mizuno S, et al. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. (Letter) Clinical Genetics, 92: 554-555, 2017

• Au PYB, Goedhart C, Ferguson M, et al. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. European Journal of Human Genetics, 26: 1272-1281, 2018