1/3. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.The association of bone marrow failure and skeletal defects has been frequently noted, however, the genetic basis for most of these syndromes remains unclear. We describe a previously uncharacterized autosomal dominant syndrome of amegakaryocytic thrombocytopenia associated with radial-ulnar synostosis. The clinical features of this syndrome appear to be distinct from other similar conditions, including Fanconi's anaemia and thrombocytopenia-absent radii (TAR). The physical findings at diagnosis and clinical management of each case are detailed, as well as a discussion of this disorder in the context of other syndromes in which marrow failure and skeletal defects are prominent features. We also review recent developments in molecular genetics that may provide important clues to the underlying aetiology of this condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/3. Unilateral fusion of the frontosphenoidal suture: a rare cause of synostotic frontal plagiocephaly.Unilateral coronal synostosis is the common appellation for premature, one-sided fusion of the frontoparietal suture-the most common cause of synostotic frontal plagiocephaly. However, frontal asymmetry can also result from isolated fusion across the anterior cranial base without involvement of the frontoparietal suture. This article describes three patients with localized synostosis of the frontosphenoidal suture, the medial extension of the coronal ring. Two patients were initially misdiagnosed as having unilateral coronal synostosis and the other as having deformational frontal plagiocephaly. The patients had variable frontal flattening, with depression and recession of the ipsilateral orbital rim. The nasal root was midline or slightly deviated to the contralateral side. The sagittal position of the ipsilateral malar eminence was slightly retruded in one patient and symmetric in the other two. The auricular position was symmetric in the sagittal plane for all patients. In all three patients, computed tomography examination demonstrated a patent frontoparietal suture and fusion of the frontosphenoidal suture (basilar hemicoronal ring). Two patients had involvement of contiguous sutures: one had fusion extending to the sphenoethmoidal suture and the other's involved part of the sphenozygomatic suture. The sagittal suture was midline in all patients. In summary, synostotic frontal plagiocephaly denotes a relatively broad phenotypic spectrum that includes unilateral coronal synostosis and more isolated fusions in the basilar coronal ring. The physical findings resulting from frontosphenoidal synostosis are unique, yet careful evaluation will minimize confusion with other causes of asymmetric frontal flattening. Proper diagnosis necessitates awareness of this uncommon entity and requires focused computed tomographic assessment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/3. Naviculo-cuneiform coalition--report of three cases.Naviculo-cuneiform coalition is a very rare condition and has only been reported by Lusby and Miki. We hereby describe three cases of this condition. The chief complaint was mild pain in the midfoot region especially after physical activity. There were no detectable deformities such as calcaneo-valgus, flatfoot or peroneal spastic foot, moreover the range of motion of the subtalar joint appeared to be normal. Conventional tomography confirmed coalition in two out of our three cases. 99mTc-MDP bone scintigraphy may be useful as a screening procedure. In past the pain associated with tarsal coalition was considered to result from the decreased range of motion in the fused joint due to ossification. However, our study have indicated that pain appeared to originate from the weakness of the cartilagenous bridges relative to the weight-bearing force over the naviculo-cuneiform joint.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |