pgen.1006746.g001.tif (2.52 MB)
Phenotype of patients with midbrain-hindbrain malformation and intellectual disability.
figure
posted on 2017-04-28, 17:50 authored by Ethiraj Ravindran, Hao Hu, Scott A. Yuzwa, Luis R. Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D. Miller, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl(A) The index patients are children (II.1, II.2) of healthy consanguineous Kurdish parents (first cousins) from Turkey. (B) Cranial MRI revealed microencephaly and hypoplasia of the pons and grooves (II.1, II.2) as well as hypoplasia of the cerebellum (II.2) or the caudal vermis (II.1). Arrow heads indicate hypoplastic pons (II.1, II.2) and cerebellum (II.2). Sagittal and axial T2 images.
