Franz Grill

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OBJECTIVE Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA(More)
BACKGROUND The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. CASE PRESENTATION A 5-year-old boy from non-consanguineous family in Austria was born with features of Pierre-Robin association (cleft palate, micrognathia, and(More)
Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They are associated with severe demyelination(More)
Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint(More)
PURPOSE Circular external fixators have several advantages over other surgical options in the treatment of limb length discrepancy and axial deformity. The innovative Taylor Spatial Frame (TSF) combines a rigid hexapod fixation system with the support of a web-based software program, and thus offers the possibility of simultaneous corrections of(More)
We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of(More)
Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed(More)
INTRODUCTION Cervical kyphosis may be potentially the most serious and, indeed, a life-threatening manifestation of Larsen syndrome because of the impingement on the spinal cord at the apex of the kyphosis. Abnormalities of the spine, specifically cervicothoracic kyphosis requires specific attention and management. CASE PRESENTATION We report on a(More)
Angular deformities of the lower limbs are a common clinical problem encountered in pediatric orthopaedic practices particularly in patients with osteochondrodysplasias. The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. We(More)
In the present report, we describe a 3-year-old girl who presented with the full clinical and radiographic features of Larsen syndrome. The knee deformity in our patient was compatible with a complete (grade 3) anterior dislocation of the tibia on the femur. The reduction of knee dislocations in Larsen syndrome patients should be completed before treatment(More)