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Saudi J Anaesth 2019 Apr-Jun;13(2):147-148

Department of Anesthesiology and Critical Care Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

Zhonghua Bing Li Xue Za Zhi 2019 Apr;48(4):303-306

Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

To investigate the clinical symptoms, imaging features, pathologic manifestations and diagnosis of tracheobronchopathia osteochondroplastica (TO). The clinical data, imaging and pathologic features and outcome of 18 TO patients diagnosed at the First Affiliated Hospital of Zhengzhou University from August 2011 to August 2018 were collected and analyzed. The 18 TO patients included 10 males and 8 females; patients' age range was 31 to 64 years (mean 52 years). Read More

Bone Joint J 2019 Apr;101-B(4):403-414

Department of Orthopaedic Surgery, Inselspital, University of Bern, Freiburgstrasse, Bern, Switzerland.

Aims: The modified Dunn procedure has the potential to restore the anatomy in hips with severe slipped capital femoral epiphyses (SCFE). However, there is a risk of developing avascular necrosis of the femoral head (AVN). In this paper, we report on clinical outcome, radiological outcome, AVN rate and complications, and the cumulative survivorship at long-term follow-up in patients undergoing the modified Dunn procedure for severe SCFE. Read More

Pediatr Neurol 2019 Feb 20. Epub 2019 Feb 20.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Orthop Clin North Am 2019 Apr;50(2):193-209

Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):199-203

Department of Pathology, Henan Provincial People's Hospital, Zhengzhou 450003, China.

To investigate the histological type and clinicopathological characteristics of the craniocerebral slope tumors with chondromucinous features. Retrospective analysis was conducted to analyze chondromucinous tumors in the slope area diagnosed at Henan Provincial People's Hospital from October 2011 to June 2018. Relevant clinical and pathological data were reviewed, and immunohistochemistry was used to investigate the immunophenotype of the tumors. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2019 Feb;21(2):176-179

Pediatric Intensive Care Unit, Fujian Provincial Maternity and Child Care Center Affiliated to Fujian Medical University, Fuzhou 350001, China.

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. Read More

J Pediatr Orthop 2019 Mar;39(3):119-124

Division of Pediatric Orthopaedics, Department of Orthopaedics, Rainbow Babies and Children's Hospitals at Case Western Reserve University, Cleveland, OH.

Background: Factors including obesity and morphologic parameters around the hip that increase physeal stress are associated with an increased risk of slipped capital femoral epiphysis (SCFE). Recent evidence suggests that superior epiphyseal extension may confer stability to the physis and help protect against SCFE. The purpose of this study is to investigate the relationship between epiphyseal extension and SCFE using an age-matched and sex-matched cohort study. Read More

Medicine (Baltimore) 2019 Feb;98(5):e14318

Department of Orthopaedic Surgery, The Affiliated Southeast Hospital of Xiamen University, Zhangzhou.

Children with fibrous dysplasia (FD) chronically suffer from pain, pathological fractures, and limb deformities. The most effective methods for managing the associated pathological fractures remain controversial. The purpose of this study was to evaluate the clinical results of the treatment of diaphyseal pathological fractures in children with monostotic fibrous dysplasia (MFD) using cortical strut allografts and internal plating. Read More

Medicine (Baltimore) 2019 Feb;98(5):e14280

Department of Pediatric Orthopedics.

The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME. Read More

Orphanet J Rare Dis 2019 01 29;14(1):23. Epub 2019 Jan 29.

College of Medicine, University of South Florida, Tampa, Florida, USA.

Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers. Read More

J Hum Genet 2019 Apr 28;64(4):291-296. Epub 2019 Jan 28.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Read More

Int J Exp Pathol 2018 12 24;99(6):312-322. Epub 2019 Jan 24.

School of Public Health, Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases of National Health Commission, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, People's Republic of China.

The purpose of this paper was to investigate chondrocyte distribution and death in the cartilage in Kashin-Beck disease (KBD). Apoptotic chondrocytes were detected by TUNEL assay. Ultrastructural changes were examined by transmission electron microscope (TEM). Read More

Best Pract Res Clin Endocrinol Metab 2018 12 28;32(6):941-954. Epub 2018 Sep 28.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself. Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G protein (Gsα) or of downstream effectors of the same pathway, such as the PKA regulatory subunit 1A and the phosphodiesterase type 4D. The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and classification has been recently proposed grouping these disorders under the term "inactivating PTH/PTHrP signaling disorder" (iPPSD). Read More

Am J Case Rep 2019 Jan 18;20:74-77. Epub 2019 Jan 18.

Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, Verona, Italy.

BACKGROUND Tracheobronchopathia osteochondroplastica (TO) is a rare idiopathic disease with a stable course, which involves the lumen of the tracheobronchial tree. Clinical manifestations at time of presentation may differ, typically including hoarseness, persistent and/or productive cough, hemoptyses, and dyspnea. There are no well-established guidelines for diagnostic workup and treatment. Read More

Medicine (Baltimore) 2019 Jan;98(3):e13997

Department of Orthopedic Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Rationale: Slipped capital femoral epiphysis (SCFE) is a common hip problem in adolescents, usually individuals between 8 and 15 years old. Because of the frequent finding of growth abnormalities in affected children, various endocrine disturbances have been reported as the cause of the disease. However, there are few case reports of older patients in previous literature. Read More

J Radiol Case Rep 2018 Nov 30;12(11):12-17. Epub 2018 Nov 30.

Department of Radiology, King Fahad Hofuf Hospital, KSA.

Melorheostosis is a benign hyperostotic disease of the peripheral skeleton, rarely involving the axial skeleton. This disease is associated with ossified and non-ossified soft tissue masses surrounding the joints. We report the case of a 28-year-old male who presented to an orthopedic clinic with a chronic history of right leg pain. Read More

Arch Pediatr 2019 Feb 10;26(2):102-107. Epub 2019 Jan 10.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street ibn jazzar, 4000 Sousse, Tunisia.

Background And Objectives: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. Read More

Lancet 2019 01;393(10167):168

Department of Orthopaedics, All India Institute of Medical Sciences, Bhopal, India.

BMJ Case Rep 2019 Jan 7;12(1). Epub 2019 Jan 7.

Division of Allergy, Immunology & Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome was first described as chronic recurrent multifocal osteomyelitis. Because of its rarity, a thorough description of its clinical manifestations is lacking. Herein, we describe the clinical manifestations and imaging features, especially the enthesopathy in bilateral Achilles tendons, of a middle-aged Asian woman with SAPHO syndrome, who improved after diclofenac treatment. Read More

Medicine (Baltimore) 2019 Jan;98(1):e13850

Department of Ultrasound.

Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients.

Patient Concerns: A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. Read More

Medicine (Baltimore) 2019 Jan;98(1):e13780

Department of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Read More

Orphanet J Rare Dis 2018 12 29;13(1):231. Epub 2018 Dec 29.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Background: Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. Read More

Spine Deform 2019 01;7(1):163-170

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA. Electronic address:

Study Design: Retrospective cross-sectional, longitudinal radiographic analysis.

Objective: To report the natural history of spinopelvic parameters in achondroplasia.

Summary Of Background Data: Sagittal spinal deformity is common in children with achondroplasia. Read More

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13644

Clinic of Oral Medicine and Orofacial Pain, Institute of Oral Health Science, Ajou University School of Medicine, Suwon, Korea (ROK).

Rationale: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the literature. Read More

Acta Ortop Mex 2018 Jul-Aug;32(4):225-228

Unidad Médica de Alta Especialidad del Hospital de Traumatología y Ortopedia de Puebla del Instituto Mexicano del Seguro Social. Puebla, México.

Background: fibrous dysplasia is characterized by the formation of fibrous tissue that generates immature malformed trabeculae. Their involvement may be monostotic or poliostotic.

Case Report: Thirty years old female with fibrous dysplasia of the left hip. Read More

Molecules 2018 Dec 11;23(12). Epub 2018 Dec 11.

Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory-IRCCS, Istituto Ortopedico Rizzoli, V. di Barbiano 1/10, 40136 Bologna, Italy.

Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters proper signaling networks leading to improper bone growth. Although recent studies demonstrated accumulation of HS in the cytoplasm of MO chondrocytes, nothing is known on the structural alterations which prevent HS from undergoing its physiologic pathway. In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 ( or ) mutations. Read More

Psychiatr Genet 2019 04;29(2):57-60

Departments of Psychiatry.

Schizophrenia is a genetically complex disease that is related to neurodevelopmental abnormalities. Several genetic polymorphisms and genetic syndromes associated with neurodevelopmental processes have been linked to schizophrenia. In this case report, we present a case with an association between microcephalic osteodysplastic primordial dwarfism type II and schizophrenia. Read More

PLoS One 2018 5;13(12):e0206858. Epub 2018 Dec 5.

Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Objective: To characterize the high-resolution computed tomography (HRCT) pulmonary abnormalities in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome.

Methods: Pulmonary HRCT images were reconstructed from whole-spine computed tomography (CT) images of 67 patients with SAPHO syndrome. HRCT images of 58 healthy controls were also obtained and reviewed. Read More

J Craniofac Surg 2019 Jan;30(1):e65-e75

Division of Plastic and Reconstructive Surgery, Department of Surgery, Mount Sinai Hospital.

Plastic surgeons are frequently consulted to evaluate concerns about a patient's skull. Imaging studies often reveal abnormalities in bone morphology, from increased porosity to sclerotic changes. While focal findings imply a benign or malignant neoplasm, the etiology of more diffuse findings can be more varied, making the correct diagnosis challenging. Read More

Med Arch 2018 Oct;72(4):289-291

Institution for Emergency Medicine, Sarajevo, Bosnia and Herzegovina.

Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. Read More

Orphanet J Rare Dis 2018 12 4;13(1):217. Epub 2018 Dec 4.

Department of Oral and Craniomaxillofacial Science, Shanghai Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, No 500, Quxi Road, Shanghai, Shanghai, China.

Objectives: To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the surgical-orthodontic treatment experience of cleidocranial dysplasia.

Methods: A comprehensive search for studies published through to April 10, 2018 was conducted using the Pubmed, Web of Science, and Embase databases. The CCD cases treated with the approach combining surgical exposure and orthodontic treatment were concluded. Read More

Eur J Pediatr 2019 Mar 29;178(3):323-329. Epub 2018 Nov 29.

Third Department of Pediatrics, National and Kapodistrian University of Athens, "Attikon" University General Hospital, Athens, Greece.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Read More

BMC Musculoskelet Disord 2018 Nov 29;19(1):417. Epub 2018 Nov 29.

Department of Orthopaedic Surgery and Institute for Rare Diseases, Korea University Medical Center, Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 152-703, Republic of Korea.

Background: Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients. The purpose of this study was to analyze sustained hip flexion contracture in achondroplasia patients who underwent femoral lengthening and to identify contributing factors.

Methods: This study included 34 patients with achondroplasia who underwent femoral lengthening (mean age at operation, 11. Read More

Shanghai Kou Qiang Yi Xue 2018 Aug;27(4):445-448

Department of Stomatology, Central Hospital of Xuzhou City. Xuzhou 221009, Jiangsu Province, China.

McCune-Albright Syndrome(MAS) is a rare disease characterized by triad of polyostotic fibrous dysplasia of bone(FD), precocious puberty, and café-au-lait skin pigmentation. This paper reported a case of McCune-Albright syndrome with hyperthyroidism, and discussed the pathogenesis, clinical manifestations, diagnosis and treatment of MAS. Read More

Gait Posture 2019 02 16;68:150-154. Epub 2018 Nov 16.

Health, Exercise and Active Living Research, Manchester Metropolitan University, United Kingdom.

Background: Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals with Achondroplasia differing to controls, but no global quantification of gait has been made in adults with Achondroplasia.

Aim: The aim of this study was to quantify gait differences between a group of adult males with Achondroplasia and controls during self-selected walking (SSW) using the Gait Profile Score (GPS). Read More

Yi Chuan 2018 Nov;40(11):1015-1023

CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

The next generation sequencing (NGS) technology has been playing important roles in genetic diagnosis of diseases in recent years, and serving as a technological basis of precision medicine. In analyzing NGS data, the variant annotation is an important step. In this study, we developed a computationally efficient software (BIG-Annotator) to perform functional annotation for whole-genome single nucleotide polymorphisms. Read More

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

Ital J Pediatr 2018 Nov 20;44(1):138. Epub 2018 Nov 20.

Division of Pediatric Endocrinology, Meyer University Children's Hospital, University of Florence, Florence, Italy.

Background: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.

Case Presentation: We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Read More

Pan Afr Med J 2018;30:196. Epub 2018 Jul 5.

Excellence Center in Diabetes, Hormones and Metabolism, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Ital J Pediatr 2018 Nov 19;44(1):136. Epub 2018 Nov 19.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Via Consolare Valeria, 98124, Messina, Italy.

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP. Read More

Genes (Basel) 2018 Nov 16;9(11). Epub 2018 Nov 16.

Department of Bioengineering, Rice University, Houston, TX 77005, USA.

Heparan sulfate proteoglycan 2 () is an essential, highly conserved gene whose expression influences many developmental processes including the formation of the heart and brain. The gene is widely expressed throughout the musculoskeletal system including cartilage, bone marrow and skeletal muscle. The gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways affecting cellular phenotype. Read More

Best Pract Res Clin Endocrinol Metab 2018 10 18;32(5):707-723. Epub 2018 Jun 18.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups. Read More

Wiad Lek 2018;71(7):1429-1432

Faculty Of Medicine And Health Science, Jan Kochanowski University, Kielce, Poland.

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the perlecan-encoding gene HSPG2. Its symptoms include muscular stiffness and hypertrophy. Read More

J Biomed Sci 2018 Nov 17;25(1):82. Epub 2018 Nov 17.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, Post code 45320, Pakistan.

Introduction: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragility fractures and progressive skeletal abnormalities. Read More

Orphanet J Rare Dis 2018 11 16;13(1):207. Epub 2018 Nov 16.

Children's Hospital, Pediatric Research Center, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

Background: Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologic and reproductive health is unknown. Vulnerability to genital infections may predispose CHH patients to prolonged human papillomavirus (HPV) infections potentially leading to cervical, vaginal and vulvar cancer. Read More

Pediatr Radiol 2019 02 15;49(2):187-195. Epub 2018 Nov 15.

Department of Musculoskeletal Radiology,, Temple University Hospital, 3401 N. Broad St., Philadelphia, PA, 19104, USA.

Background: Focal fibrocartilaginous dysplasia is a rare growth disturbance of bone resulting in deformity. In the ulna, focal fibrocartilaginous dysplasia is particularly rare, and the characteristic fibroligamentous tether can result in progressive deformity with progressive dislocation of the radial head. The fibroligamentous tether is similar in appearance and function to the Vickers ligament seen in Madelung deformity. Read More

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

BMJ Case Rep 2018 Nov 12;2018. Epub 2018 Nov 12.

Division of Oral and Maxillofacial Radiology, Department of Diagnostic Sciences, Rutgers School of Dental Medicine, Newark, New Jersey, USA.

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Read More