A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutati...

PURPOSE To study the possible causes of intra-operative metaphyseal fractures in elderly patients undergoing hemiarthroplasty for displaced intracapsular femoral neck fracture. METHODS 36 men and 228 women aged 61 to 89 years with 273 displaced femoral neck fractures underwent hemiarthroplasty using a hydroxyapatite ceramic-coated Furlong bipolar prosthesis. Anteroposterior and lateral radiog...

Nonossifying fibromas and fibrous cortical defects are the most common benign lesions of the skeletal system. They are frequently detected incidentally on radiographs taken for an unrelated reason. The diagnosis is routinely made solely on the basis of the history, physical examination, and radiographic appearance. The incidence of multifocal nonossifying fibroma is typically underestimated in ...

Purpose. The Anatomic Fiber Metal plus stem (Zimmer) is one of the anatomically designed cementless stems to achieve stable fixation by metaphyseal fit. We studied outcomes of cementless total hip arthroplasty using this stem and possible effects of metaphyseal fit on outcomes. Methods. The cementless total hip arthroplasty using this stem was performed for 155 hips. One hundred and thirty-seve...

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficie...