TY - JOUR
T1 - An unusual presentation of Kabuki syndrome
T2 - Clinical overlap with CHARGE syndrome
AU - Verhagen, Judith M.A.
AU - Oostdijk, Wilma
AU - Terwisscha van Scheltinga, Cecilia E.J.
AU - Schalij-Delfos, Nicoline E.
AU - van Bever, Yolande
N1 - Publisher Copyright:
© 2014 Elsevier Masson SAS.
PY - 2014/9
Y1 - 2014/9
N2 - Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis.
AB - Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis.
UR - http://www.scopus.com/inward/record.url?scp=84925938118&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2014.05.005
DO - 10.1016/j.ejmg.2014.05.005
M3 - Article
C2 - 24862881
AN - SCOPUS:84925938118
SN - 1769-7212
VL - 57
SP - 510
EP - 512
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 9
ER -