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Correction: Osteoporosis-pseudoglioma syndrome.
Pediatr Radiol
December 2024
Department of Radiology, Nemours Children's Hospital, Wilmington, DE, 19803, USA.
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.
Osteoporos Int
January 2018
Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Suite 11NW 30, Philadelphia, PA, 19104, USA.
Unlabelled: This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood.
Introduction: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1).
Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy.
J Pediatr Ophthalmol Strabismus
February 2016
Familial exudative vitreoretinopathy and osteoporosis pseudoglioma syndrome are conditions that result from mutations in the LRP5 gene. Persistent fetal vasculature is a rare congenital malformation that can mimic end-stage familial exudative vitreoretinopathy. The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature.
View Article and Find Full Text PDFFailure of operative treatment in a child with osteoporosis-pseudoglioma syndrome.
Clin Orthop Relat Res
May 2003
Trauma Surgery Department, Medical School of Hannover, Germany.
A 6-year-old girl with osteoporosis-pseudoglioma syndrome had operative treatment of a distal femur fracture that failed. Osteoporosis-pseudoglioma syndrome is an autosomal recessive syndrome combining severe premature osteoporosis with a bilateral eye disorder leading to early onset of blindness. Beginning in early childhood, the patient sustained multiple fractures of the left distal femur that were treated nonoperatively.
View Article and Find Full Text PDFModern approach to children with osteogenesis imperfecta.
J Pediatr Orthop B
March 2003
Shriners Hospital for Children and McGill University, Montréal, Québec, Canada.
Osteogenesis Imperfecta (OI) is characterized by bone fragility. At least seven discrete types have been described ranging from mild disease to a lethal form. In a large number of cases, mutations in one of the two genes encoding type I collagen have been found.
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