Frank-ter Haar-Syndrom
Frank-ter
Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. A-D: Patient 1. A: Antero-posterior (AP) view showing facial features including hypertelorism. B: Lateral view showing brachycephaly and micrognathia. C: X-ray (XR) right radius/ulna showing broad appearance of the radius at the junction between the proximal and middle thirds. D: XR left hand showing crowding of the carpal bones, broad metacarpals, proximal and middle phalanges, and flexion at the MCP and PIP joints. E-G: Patient 2. E: AP view showing facial features including hypertelorism. F: Lateral view showing brachycephaly. G: 3D CT scan showing absence of the sagittal suture. H-J: Patient 3. H: AP view showing facial features including hypertelorism. I: Lateral view showing class III malocclusion and brachycephaly. J: 3D CT scan showing absence of the sagittal suture.
Das Frank-ter Haar-Syndrom ist eine seltene primäre Knochendysplasie. Kennzeichnend sind Megalokornea, multiple Skelettanomalien unter anderem mit charakteristischen Gesichtsdysmorphien (breite Fontanellen, prominente Stirn, Hypertelorismus, Mikrognathie) und zusätzlich Entwicklungsverzögerung.
Siehe auch:
Assoziationen und Differentialdiagnosen zu Frank-ter Haar-Syndrom: