571 results match your criteria Spondyloepiphyseal Dysplasia
Rheumatol Int 2018 Oct 16. Epub 2018 Oct 16.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122, Milan, Italy.
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised by the progressive degeneration of articular cartilage that leads to pain, stiffness and joint enlargement. As PPRD is a rare disease, available literature is mainly represented by single case reports and only a few larger case series. Our aim is to review the literature concerning clinical, laboratory and radiological features of PPRD. Read More
Pediatr Rheumatol Online J 2018 Sep 10;16(1):55. Epub 2018 Sep 10.
Department of Rheumatology, Hainan Branch of Chinese People's Liberation Army General Hospital, Haitang Bay, Sanya, China.
Background: As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood. PPD is a very rare disease, especially in China, and has an estimated prevalence of 1/1000000 due to lacking definite prevalence survey. It is an autosomal recessive disorder caused by gene mutation of Wntl inducible signaling pathway protein 3 (WISP3). Read More
Medicine (Baltimore) 2018 Sep;97(36):e12214
Department of Hematology, Provincial Hospital Affiliated to Shandong University.
Rationale: Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia. Here we reported 1 patient with APL with CHST3 mutations. Read More
BMJ Case Rep 2018 Aug 23;2018. Epub 2018 Aug 23.
Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
A 10-month-old girl, with spondyloepiphyseal dysplasia congenita and posterior cleft palate had presented at 23 days of life with history of feeding difficulties. A diagnosis of oropharyngeal dysphagia and gastro-oesophageal reflux disease was made, for which she was started on nasogastric tube feeding and oral ranitidine. However, she continued to have poor development of oropharyngeal skills, persistent reflux as well as poor growth and was planned for gastrostomy at 10 months of age. Read More
Clin Pediatr Endocrinol 2018 31;27(3):193-196. Epub 2018 Jul 31.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Med Princ Pract 2018 21;27(5):451-458. Epub 2018 Jun 21.
Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Objective: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders.
Design: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Read More
Orv Hetil 2018 Jun;159(23):919-928
Klinikai Immunológiai, Felnőtt- és Gyermekreumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet Budapest, Frankel Leó út 38-40., 1023.
Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Read More
Mol Genet Metab 2018 Sep 15;125(1-2):18-37. Epub 2018 May 15.
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia. Read More
Reumatologia 2018 28;56(1):59-62. Epub 2018 Feb 28.
Department of Older Children with Subunits of Neurology, Rheumatology and Rehabilitation, St. Louis Regional Specialised Children's Hospital, Krakow, Poland.
We present a case study of a 9.5-year-old girl affected by chromosome 12 aberration with the suspicion of juvenile idiopathic arthritis (JIA). All the tests performed at the hospital and the presence of a genetic disorder ledus to search for a diagnosisother than JIA. Read More
Bone 2018 Jul 13;112:42-50. Epub 2018 Apr 13.
Department of Orthopaedic Surgery, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
Spondyloepiphyseal dysplasia (SED) exemplifies a group of heritable diseases caused by mutations in collagenous proteins of the skeletal system. Its main feature is altered skeletal growth. Pathomechanisms of SED include: changes in the stability of collagen II molecules, inability to form proper collagen fibrils, excessive intracellular retention of mutant molecules, and endoplasmic reticulum stress. Read More
Case Rep Ophthalmol 2018 Jan-Apr;9(1):138-142. Epub 2018 Feb 9.
Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. Read More
Mol Syndromol 2018 Feb 2;9(2):92-99. Epub 2018 Feb 2.
Laboratório de Medicina Genômica, Departamento de Genética Médica.
Mutations in the fibroblast growth factor receptor 3 gene () cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the gene were PCR amplified and sequenced. Read More
Clin Endocrinol (Oxf) 2018 Jun 24;88(6):820-829. Epub 2018 Mar 24.
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autonóma de Madrid, IdiPAZ, Madrid, Spain.
Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis.
Design And Methods: This study involves clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2). Read More
Int J Mol Sci 2018 Feb 11;19(2). Epub 2018 Feb 11.
Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or Y position within the Gly-X-Y cause different phenotypes like Stickler syndrome and congenital spondyloepiphyseal dysplasia (SEDC). Read More
BMC Res Notes 2018 Feb 7;11(1):106. Epub 2018 Feb 7.
Department of Spine Surgery, Saga Medical Centre, Koseikan, 400 Nakabaru Kase-Machi, Saga, 840-8571, Japan.
Background: Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal stability and/or neural decompression. Being highly unstable by nature, they require relatively long segment instrumentation and fusion, which can increase paravertebral soft tissue damage and perioperative bleeding. Read More
J Allergy Clin Immunol 2018 Aug 31;142(2):630-646. Epub 2018 Jan 31.
VIB Centre for Brain and Disease Research, Leuven, Belgium; Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium. Electronic address:
Background: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous variants in the small nuclear RNA gene RNU4ATAC, which is necessary for U12-type intron splicing, were identified recently as driving Roifman syndrome.
Objective: We studied 3 patients from 2 unrelated kindreds harboring compound heterozygous or homozygous stem II variants in RNU4ATAC to gain insight into the mechanisms behind this disorder. Read More
Hum Genome Var 2018 11;5:17059. Epub 2018 Jan 11.
Institutes of Biomedical Sciences, Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Shanxi University, Taiyuan, China.
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel mutation in the gene, c.1150G>A (p. Read More
BMC Pediatr 2017 12 28;17(1):217. Epub 2017 Dec 28.
Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, 210002, People's Republic of China.
Background: Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD.
Case Presentation: The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguineous Chinese parents. Read More
J Pediatr Endocrinol Metab 2018 Jan;31(1):85-86
Medical School, National and Kapodistrian University of Athens, Athens, Attiki, Greece.
Int J Obstet Anesth 2018 02 28;33:96-97. Epub 2017 Sep 28.
Department of Obstetrics, Edinburgh Royal Infirmary, Edinburgh, UK.
BMJ Case Rep 2017 Oct 20;2017. Epub 2017 Oct 20.
Department of Medicine, Midnapore Medical College and Hospital, Midnapore, West Bengal, India.
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians. Read More
J Med Case Rep 2017 Aug 26;11(1):237. Epub 2017 Aug 26.
Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.
Background: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. Read More
Int J Pediatr Otorhinolaryngol 2017 Aug 22;99:13-16. Epub 2017 May 22.
Respiratory Endoscopy Unit, Department of Paediatric Anesthesia and Intensive Care, Meyer Children Hospital, Florence, Italy.
We describe the case of a boy with spondyloepiphyseal dysplasia congenita. At birth, he experienced severe respiratory distress necessitating tracheotomy. Endoscopy done because mechanical ventilation failed to resolve desaturations disclosed severe tracheo-bronchomalacia. Read More
Clin Chim Acta 2017 Jun 7;469:126-129. Epub 2017 Apr 7.
Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China; Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Department of Neurology, Harvard Medical School, Boston, MA, United States. Electronic address:
Background: Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. A recent international cohort study significantly expanded the ACAN mutation spectrum, further delineated the heterogeneous clinical characteristics of ACAN mutation patients. The prevalence of ACAN mutation in short stature patients is yet unknown. Read More
Case Rep Rheumatol 2017 21;2017:1609247. Epub 2017 Feb 21.
District General Hospital, Nuwara Eliya, Sri Lanka.
Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Read More
Hum Genome Var 2017 2;4:17003. Epub 2017 Mar 2.
Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of . Read More
J Clin Invest 2017 Apr 6;127(4):1475-1484. Epub 2017 Mar 6.
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c. Read More
Clin Genet 2017 Jun 23;91(6):868-880. Epub 2017 Feb 23.
Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. Read More
Joint Bone Spine 2017 Dec 11;84(6):663-670. Epub 2017 Feb 11.
UPMC university Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of rheumatology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population. Read More
PLoS One 2017 9;12(2):e0172068. Epub 2017 Feb 9.
Department of Orthopaedic Surgery, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
Skeletal dysplasias form a group of skeletal disorders caused by mutations in macromolecules of cartilage and bone. The severity of skeletal dysplasias ranges from precocious arthropathy to perinatal lethality. Although the pathomechanisms of these disorders are generally well defined, the feasibility of repairing established aberrant skeletal tissues that developed in the presence of mutant molecules is currently unknown. Read More
J Pediatr Orthop 2017 Jan 30. Epub 2017 Jan 30.
Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
Background: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a useful treatment. The aim of this study was to discuss the clinical, radiographic, and gait outcomes after valgus extension osteotomy of the proximal femur. Changes of lumbar lordosis, associated with coxa vara correction, are reported as well as the outcome differences between different ages. Read More
Case Rep Pediatr 2016 28;2016:3198597. Epub 2016 Nov 28.
Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. Read More
J Ayurveda Integr Med 2016 Oct - Dec;7(4):249-254. Epub 2016 Nov 25.
S.S.S.B. Ayurvedic College and Hospital, Jaipur, 303603, Rajasthan, India.
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Read More
Qual Life Res 2017 05 19;26(5):1337-1348. Epub 2016 Nov 19.
Department of Surgery, Center for Surgery and Public Health, Brigham & Women's Hospital, Harvard Medical School, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Introduction: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. Read More
J Assoc Physicians India 2016 07;64(7):85-86
We describe a case of Spondyloepiphyseal Dysplasia Congenita (SEDc) who presented to our rheumatology clinic with complaints of painful swelling of bilateral elbow, knee, distal and proximal interphalangeal joints (DIP and PIP) of hands and small joints of foot. Patient also complained of restriction during extension of bilateral wrist joint and lateral rotation of neck on both sides. He was also unable to walk without support. Read More
Am J Med Genet A 2017 Jan 18;173(1):163-168. Epub 2016 Oct 18.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular matrix of cartilage. Read More
Bone Joint Res 2016 Jul;5(7):301-6
Paediatric Orthopaedics Unit, Department of Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, 632004, India.
Objectives: To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population.
Patients And Methods: A total of 15 patients with clinical features of PPD were enrolled in this study. Genomic DNA was isolated and polymerase chain reaction performed to amplify the WISP3 gene. Read More
Turk J Pediatr 2015 Sep-Oct;57(5):509-13
Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.
Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Read More
Yonsei Med J 2016 Sep;57(5):1290-3
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. Read More
Orphanet J Rare Dis 2016 06 28;11(1):86. Epub 2016 Jun 28.
Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK.
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation. However, very little is currently known about the disease pathways that underlie these aggrecanopathies, although they are likely to be a combination of haploinsufficiency and dominant-negative (neomorphic) mechanisms. Read More
Mol Genet Metab Rep 2016 Sep 7;8:8-12. Epub 2016 Jun 7.
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Read More
Indian J Anaesth 2016 Jun;60(6):435-7
Department of Anaesthesia and Intensive Care, Government Medical College and Hospital, Chandigarh, India.
Hum Genome Var 2016 19;3:16007. Epub 2016 May 19.
Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan.
The purpose of this study was to describe a family with spondyloepiphyseal dysplasia caused by a novel type II collagen gene (COL2A1) mutation and the family's phenotypic diversity. Clinical and radiographic examinations of skeletal dysplasia were conducted on seven affected family members across two generations. The entire coding region of COL2A1, including the flanking intron regions, was analyzed with PCR and direct sequencing. Read More
Afr J Paediatr Surg 2016 Apr-Jun;13(2):88-94
Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.
Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset.
Materials And Methods: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study. Read More
BMJ Case Rep 2016 May 11;2016. Epub 2016 May 11.
Department of Medicine, Midnapore Medical College & Hospital, Midnapore, West Bengal, India.
A 16-year-old boy with widening of the large joints of the extremities and bilateral genu valgum had been extensively treated with oral vitamin D, with little clinical benefit. A diagnosis of vitamin D-resistant rickets was considered initially but a thorough clinical examination and skeletal survey was suggestive of mucopolysaccharidosis. The diagnosis was confirmed biochemically and subtype classification pointed toward the type I variety of the storage disorder. Read More
Eur Spine J 2016 09 8;25(9):2967-74. Epub 2016 Apr 8.
Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.
Purpose: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature.
Methods: Medical history, physical examination, radiographic and laboratory tests were obtained from three Chinese clinically diagnosed SEDC patients. PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. Read More
Am J Med Genet A 2016 06 17;170(6):1595-9. Epub 2016 Mar 17.
Multidisciplinary Unit for Skeletal dysplasias (UMDE), Hospital Universitario La Paz, Madrid, Spain.
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Read More
Genet Mol Res 2016 Mar 11;15(1):15017624. Epub 2016 Mar 11.
Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. Using whole-exome sequencing (WES), we successfully identified a de novo heterozygous mutation, c. Read More