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Diagnostics (Basel) 2020 May 7;10(5). Epub 2020 May 7.

Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan.

Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders. The molecular mechanisms underlying this condition are also diverse. Hundreds of genes are involved in the pathogenesis of SD, but most of them are yet to be elucidated, rendering genotyping almost infeasible except those most common such as fibroblast growth factor receptor 3 (), collagen type I alpha 1 chain (), collagen type I alpha 2 chain (), diastrophic dysplasia sulfate transporter (), and SRY-box 9 (). Read More

Eur J Med Genet 2019 Nov 10;62(11):103573. Epub 2018 Nov 10.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. We report on two new patients with rMED and very rare compound heterozygous mutation combinations in non-consanguineous families. Patient I presented in childhood with waddling gait and joint stiffness. Read More

J Pharm Sci 2017 12 19;106(12):3631-3641. Epub 2017 Aug 19.

Department of Drug Science, University of Pavia, V.le Taramelli 115, Pavia 27100, Italy. Electronic address:

Potential off-label therapeutic role of N-acetylcysteine (N-Ac) was recently demonstrated in the treatment of diastrophic dysplasia (DTD) using mutant mice; its main drawback is the rapid clearance from blood due to the liver metabolism. Our goal was to investigate the potential of polyethylene glycol polylactide-co-glycolide block copolymer (PLGA-PEG)-based nanoparticles (NPs) in order to improve in vivo biodistribution performances and N-Ac pharmacokinetic profile after subcutaneous administration in mice. Results suggest that N-Ac can be effectively loaded into NPs (about 99 μg/mg NPs) using a suitably optimized nanoprecipitation method. 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 Craniovertebr Junction Spine 2015 Oct-Dec;6(4):216-8

Department of Orthopaedic Surgery and Rehabilitation, Faculty of Medicine, Jagiellonian University, Zakopane, Poland.

Cervical kyphosis in diastrophic dysplasia (DTD) is a very dangerous deformity which may lead to compression of neural structures resulting in tetraplegia or even. Treatment of this deformity is usually surgical, but no long-term follow-up studies are presented in the literature. Authors present a case of two children with DTD who underwent anterior corpectomy due to severe cervical kyphosis. Read More

Biochem J 2016 Mar 3;473(5):615-26. Epub 2015 Dec 3.

Department of Biochemistry, University of Toronto, Toronto, ON, Canada, M5S 1A8

The human solute carrier 26 (SLC26) family of anion transporters consists of ten members that are found in various organs in the body including the stomach, intestine, kidney, thyroid and ear where they transport anions including bicarbonate, chloride and sulfate, typically in an exchange mode. Mutations in these genes cause a plethora of diseases such as diastrophic dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), congenital chloride-losing diarrhoea (SLC26A3) affecting chloride secretion in the intestine and Pendred's syndrome (SLC26A4) resulting in hearing loss. To understand how these mutations affect the structures of the SLC26 membrane proteins and their ability to function properly, 12 human disease-causing mutants from SLC26A2, SLC26A3 and SLC26A4 were introduced into the equivalent sites of the sulfate transporter anti-sigma factor antagonist (STAS) domain of a bacterial homologue SLC26 protein DauA (YchM). Read More

J Pediatr Orthop 2016 Oct-Nov;36(7):709-14

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: The aim of this study was to describe the dynamic lower extremity alignment in children with diastrophic dysplasia (DD) by 3-dimensional gait analyses. Our main hypothesis was that gait kinematics and kinetics are different than the age-normalized population and patellar dislocation can alter the gait in patients with DD.

Methods: A retrospective review of clinical data and radiographs was conducted for patients with DD who had gait analysis before lower extremity skeletal surgery excluding foot procedures. Read More

Hum Mol Genet 2015 Oct 23;24(19):5570-80. Epub 2015 Jul 23.

Department of Molecular Medicine, Unit of Biochemistry and

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in SLC26A2, a cell membrane sulfate-chloride antiporter. Sulfate uptake impairment results in low cytosolic sulfate, leading to cartilage proteoglycan (PG) undersulfation. In this work, we used the dtd mouse model to study the role of N-acetyl-l-cysteine (NAC), a well-known drug with antioxidant properties, as an intracellular sulfate source for macromolecular sulfation. Read More

A A Case Rep 2015 Jul;5(1):6-8

From the *Department of Anesthesiology, †Department of Otolaryngology, and ‡Department of Obstetrics and Gynecology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire; and §Mountain West Anesthesia, Park City, Utah.

A 27-year-old primigravida patient with diastrophic dysplasia (DTD) presented to our obstetrics clinic at 8 weeks' gestational age. Diastrophic dysplasia is a rare, autosomal-recessive abnormality that presents multiple challenges to perinatal anesthetic management, including difficult airway management and relative contraindications to neuraxial anesthesia. The patient underwent elective cesarean delivery at 35 weeks' gestational age under general anesthesia. Read More

Proc Natl Acad Sci U S A 2015 Jun 15;112(26):8064-9. Epub 2015 Jun 15.

Institute of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an 710000, China;

Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3-6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Read More

Orthop Surg 2014 Nov;6(4):274-9

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

Objective: Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion.

Methods: Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Read More

J Cell Sci 2014 Oct 21;127(Pt 20):4420-8. Epub 2014 Aug 21.

Department of Molecular Biology, Princeton University, Princeton, NJ 08544-1014, USA

Mesenchymal cell condensation is the initiating event in endochondral bone formation. Cell condensation is followed by differentiation into chondrocytes, which is accompanied by induction of chondrogenic gene expression. Gene mutations involved in chondrogenesis cause chondrodysplasias and other skeletal defects. Read More

J Pediatr 2014 Jun 25;164(6):1493-4. Epub 2014 Mar 25.

Department of Pediatrics, Bangalore Medical College and Research Institute, Bangalore, India.

Indian Pediatr 2014 Feb;51(2):161

Department of Endocrinology and Metabolism, AIIMS, Ansari Nagar, New Delhi, India.

Clin Genet 2015 Mar 1;87(3):273-8. Epub 2014 Apr 1.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Folkhälsan Institute of Genetics, Helsinki, Finland.

Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED). Read More

Hypertension 2014 May 3;63(5):1102-9. Epub 2014 Mar 3.

Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ziemssenstr. 1, D-80336 Munich, Germany.

Elucidation of the molecular mechanisms leading to autonomous aldosterone secretion is a prerequisite to define potential targets and biomarkers in the context of primary aldosteronism. After a genome-wide association study with subjects from the population-based Cooperative Health Research in the Region of Augsburg F4 survey, we observed a highly significant association (P=6.78×10(-11)) between the aldosterone to renin ratio and a locus at 5q32. Read More

Int J Biochem Cell Biol 2014 Jul 14;52:58-67. Epub 2014 Feb 14.

INSERM, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France. Electronic address:

The solute carrier 26 (SLC26) proteins are transmembrane proteins located at the plasma membrane of the cells and transporting a variety of monovalent and divalent anions, including chloride, bicarbonate, sulfate and oxalate. In humans, 11 members have been identified (SLC26A1 to SLC26A11) and although part of them display a very restricted tissue expression pattern, altogether they are widely expressed in the epithelial cells of the body where they contribute to the composition and the pH regulation of the secreted fluids. Importantly, mutations in SLC26A2, A3, A4, and A5 have been associated with distinct human genetic recessive disorders (i. Read More

J Biol Chem 2014 Jan 3;289(4):1993-2001. Epub 2013 Dec 3.

From the Department of Biological Science, Research Center for Women's Disease, Sookmyung Women's University, Seoul 140-742, Republic of Korea.

Mutations in the SO4(2-)/Cl(-)/OH(-) exchanger Slc26a2 cause the disease diastrophic dysplasia (DTD), resulting in aberrant bone development and, therefore, skeletal deformities. DTD is commonly attributed to a lack of chondrocyte SO4(2-) uptake and proteoglycan sulfation. However, the skeletal phenotype of patients with DTD is typified by reduction in cartilage and osteoporosis of the long bones. Read More

J Pediatr Endocrinol Metab 2014 Jan;27(1-2):75-80

Background: Multiple epiphyseal dysplasia (MED) is one of the common hereditary osteochondrodysplasias. Mutations in diastrophic dysplasia sulfate transporter gene (DTDST) result in recessive MED.

Objective: To investigate the possible gene mutation in a recessive MED patient. Read More

Am J Med Genet A 2013 Aug 9;161A(8):2088-94. Epub 2013 Jul 9.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.

Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. The clinical variability has been ascribed to quantitative effect of mutations of the sulfate transporter activity. Here we describe two Brazilian sisters, born to healthy and non consanguineous parents, with Robin sequence, mild shortening of upper and lower limbs, brachymetacarpalia/tarsalia, additional and accelerated carpal ossification, marked genu valgum, and multiple epiphysial dysplasia. Read More

Sao Paulo Med J 2013 ;131(2):127-32

Faculdades Integradas do Brasil UniBrasil, Curitiba, Paraná, Brazil.

Context: Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births.

Case Report: The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. Read More

Am J Med Genet A 2013 Jun 23;161A(6):1491-4. Epub 2013 Apr 23.

Department of Paediatric Orthopaedic Surgery, Turku University Central Hospital, Turku, Finland.

J Rehabil Med 2013 Mar;45(3):308-13

Orton Rehabilitation Centre, Orton Orthopaedic Hospital, Helsinki, Finland.

Objective: The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented.

Methods: The study sample comprised 115 patients with diastrophic dysplasia, aged over 18 years. The patients were contacted, and 68 patients (59%) agreed to participate in the study. Read More

Bone 2013 May 28;54(1):83-91. Epub 2013 Jan 28.

Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Pavia, Italy.

Diastrophic dysplasia (DTD) is a chondrodysplasia caused by mutations in the SLC26A2 gene, leading to reduced intracellular sulfate pool in chondrocytes, osteoblasts and fibroblasts. Hence, proteoglycans are undersulfated in the cartilage and bone of DTD patients. To characterize the bone phenotype of this skeletal dysplasia we used the Slc26a2 knock-in mouse (dtd mouse), that was previously validated as an animal model of DTD in humans. Read More

Am J Med Genet A 2012 Jul 24;158A(7):1551-5. Epub 2012 May 24.

Department of Otolaryngology-Head and Neck Surgery, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287-0910, USA.

A hearing screening program was performed to determine the prevalence of hearing loss and abnormal tympanometry in individuals with short-stature skeletal dysplasias attending a national meeting. Behavioral audiometry, otoacoustic emission testing, and tympanometry were used to assess hearing. Failed hearing screen was defined as hearing ≥ 35 dB at one or more frequencies or by "fail" on otoacoustic emissions. Read More

J Biol Chem 2012 Jun 3;287(26):22030-42. Epub 2012 May 3.

Section on Physical Biochemistry, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

Diastrophic dysplasia (DTD) is an incurable recessive chondrodysplasia caused by mutations in the SLC26A2 transporter responsible for sulfate uptake by chondrocytes. The mutations cause undersulfation of glycosaminoglycans in cartilage. Studies of dtd mice with a knock-in Slc26a2 mutation showed an unusual progression of the disorder: net undersulfation is mild and normalizing with age, but the articular cartilage degrades with age and bones develop abnormally. Read More

J Biol Chem 2012 Feb 21;287(7):5122-32. Epub 2011 Dec 21.

Epithelial Signaling and Transport Section, Molecular Physiology and Therapeutics Branch, NIDCR, National Institutes of Health, Bethesda, Maryland 20892, USA.

Slc26a2 is a ubiquitously expressed SO(4)(2-) transporter with high expression levels in cartilage and several epithelia. Mutations in SLC26A2 are associated with diastrophic dysplasia. The mechanism by which Slc26a2 transports SO(4)(2-) and the ion gradients that mediate SO(4)(2-) uptake are poorly understood. Read More

Hum Mol Genet 2012 Mar 25;21(6):1287-98. Epub 2011 Nov 25.

INSERM, U1016, Institut Cochin, Paris, France.

The Slc26 gene family encodes several conserved anion transporters implicated in human genetic disorders, including Pendred syndrome, diastrophic dysplasia and congenital chloride diarrhea. We previously characterized the TAT1 (testis anion transporter 1; SLC26A8) protein specifically expressed in male germ cells and mature sperm and showed that in the mouse, deletion of Tat1 caused male sterility due to a lack of sperm motility, impaired sperm capacitation and structural defects of the flagella. Ca(2+), Cl(-) and HCO(3)(-) influxes trigger sperm capacitation events required for oocyte fertilization; these events include the intracellular rise of cyclic adenosine monophosphate (cAMP) and protein kinase A (PKA)-dependent protein phosphorylation. Read More

Spine (Phila Pa 1976) 2012 Mar;37(5):E269-77

Department of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.

Study Design: Focused review of the literature.

Objective: Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.

Summary Of Background Data: Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. Read More

Semin Cell Dev Biol 2011 Aug 17;22(6):653-9. Epub 2011 Mar 17.

Mater Medical Research Institute, South Brisbane, Queensland, Australia.

Sulfate (SO(4)(2-)) is an important nutrient for human growth and development, and is obtained from the diet and the intra-cellular metabolism of sulfur-containing amino acids, including methionine and cysteine. During pregnancy, fetal tissues have a limited capacity to produce sulfate, and rely on sulfate obtained from the maternal circulation. Sulfate enters and exits placental and fetal cells via transporters on the plasma membrane, which maintain a sufficient intracellular supply of sulfate and its universal sulfonate donor 3'-phosphoadenosine 5'-phosphosulfate (PAPS) for sulfate conjugation (sulfonation) reactions to function effectively. Read More

Int J Pediatr Otorhinolaryngol 2011 May 17;75(5):713-5. Epub 2011 Mar 17.

Division of Pediatric Otolaryngology, Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, United States; Department of Otolaryngology, Head and Neck Surgery, Hospital for Sick Children, Toronto, ON, Canada.

In diastrophic dysplasia, auricular swelling commonly occurs in early infancy, inevitably leading to deformity. Till date, no description exists in the literature for the initial treatment of auricular swelling in this population. We present two siblings with diastrophic dysplasia on whom auricular swelling was treated with incision and drainage or conforming auricular molds. Read More

Clin Genet 2011 Dec 13;80(6):550-7. Epub 2010 Dec 13.

Unidade de Genética Médica, Centro de Genética Médica Dr. Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal.

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). Read More

Am J Med Genet A 2010 Dec;152A(12):3036-42

Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana, USA.

DTDST mutations cause a spectrum of diastrophic dysplasia disorders characterized by defects of proteoglycans sulfation. Reduction of sulfate/chloride antiporter activity is manifested by lower sulfate uptake and depends on a combination of mutations in DTDST. We analyzed a family with an autosomal recessive form of bone dysplasia. Read More

Am J Med Genet A 2010 Dec;152A(12):3043-50

Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

Mutations in diastrophic dysplasia sulfate transporter (DTDST) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED). This is the first report of an extended family with unequivocally distinct phenotypes on the DTDST spectrum. Read More

AANA J 2010 Oct;78(5):366-8

York College of Pennsylvania/WellSpan Health Nurse Anesthetist Program, USA.

Diastrophic dwarfism is an autosomal recessive disease that predominantly occurs in the Finnish population (1 in 33,000) but has been known to occur worldwide. Affected patients present with multiple cartilaginous anomalies and early degeneration of weight-bearing joints. Once past infancy, life expectancy is favorable and patients may undergo multiple surgical procedures throughout their lifetime to repair . Read More

Ortop Traumatol Rehabil 2010 May-Jun;12(3):257-63

Department of Paediatric Propedeu tics and Bone Metabolism Diseases, Faculty of Medicine, Medical University of Łódź.

Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs. The condition is progressive and leads to considerable physical disability. It continues to constitute a challenge for doctors as the outcomes of corrective orthopaedic surgery are limited. Read More

J Korean Med Sci 2010 Jul 16;25(7):1105-8. Epub 2010 Jun 16.

Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea.

Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. Read More

J Pediatr Orthop 2010 Jun;30(4):403-10

Department of Pediatric Orthopaedic Surgery, Akron Children's Hospital, Akron, OH, USA.

Purpose: Surgical correction of the hip and knee in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy of both the bone and soft tissues. The objective of this study is to provide a 3-dimensional model and carefully and extensively describe the pathoanatomy of the diastrophic hip and knee.

Methods: Three-dimensional computer model reconstructions were developed based on clinical, radiographic, and surgical observations performed "meticulously" by a single surgeon on 110 hips in 55 patients. Read More

Matrix Biol 2010 Jul 11;29(6):453-60. Epub 2010 May 11.

Department of Biochemistry Alessandro Castellani, University of Pavia, Pavia, Italy.

Mutations in the sulfate transporter gene, SCL26A2, lead to cartilage proteoglycan undersulfation resulting in chondrodysplasia in humans; the phenotype is mirrored in the diastrophic dysplasia (dtd) mouse. It remains unclear whether bone shortening and deformities are caused solely by changes in the cartilage matrix, or whether chondroitin sulfate proteoglycan undersulfation affects also signalling pathways involved in cell proliferation and differentiation. Therefore we studied macromolecular sulfation in the different zones of the dtd mouse growth plate and these data were related to growth plate histomorphometry and proliferation analysis. Read More

Histochem Cell Biol 2010 May 6;133(5):541-7. Epub 2010 Apr 6.

Division of Natural Sciences and Engineering, University of South Carolina Upstate, 800 University Way, Spartanburg, SC 29303, USA.

The SLC26 family represents a group of integral membrane anion transport proteins. Mutations in one member of this protein family, SLC26A2 (DTDST or diastrophic dysplasia sulfate transporter), result in various chondrodysplasias due to undersulfation of proteoglycans in chondrocytes, a major site of DTDST protein expression. DTDST mRNA has been detected in the kidney, but protein expression has not been characterized. Read More

Am J Med Genet A 2010 Apr;152A(4):875-85

Department of Radiology, Ajou University Hospital, Suwon, South Korea.

We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. Read More

Am J Physiol Cell Physiol 2010 Jun 10;298(6):C1363-75. Epub 2010 Mar 10.

Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.

Nephrolithiasis in the Slc26a6(-/-) mouse is accompanied by 50-75% reduction in intestinal oxalate secretion with unchanged intestinal oxalate absorption. The molecular identities of enterocyte pathways for oxalate absorption and for Slc26a6-independent oxalate secretion remain undefined. The reported intestinal expression of SO(4)(2-) transporter SLC26A2 prompted us to characterize transport of oxalate and other anions by human SLC26A2 and mouse Slc26a2 expressed in Xenopus oocytes. Read More

Cases J 2009 Jun 17;2:6729. Epub 2009 Jun 17.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

Introduction: Cervical kyphosis may be potentially the most serious and, indeed, a life-threatening manifestation of Larsen syndrome because of the impingement on the spinal cord at the apex of the kyphosis. Abnormalities of the spine, specifically cervicothoracic kyphosis requires specific attention and management.

Case Presentation: We report on a 3-year-old boy who presented with full clinical and the radiographic features of Larsen syndrome. Read More

Spine (Phila Pa 1976) 2009 Sep;34(20):2151-7

Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland.

Study Design: A long-term, population based, retrospective follow-up study.

Objective: To evaluate long-term outcomes of brace and surgical treatment for spinal deformities in patients with diastrophic dysplasia (DD).

Summary Of Background Data: Literature on the brace treatment and surgery of spinal deformities in patients with DD is limited. Read More

Connect Tissue Res 2009 ;50(4):232-42

Department of Experimental Medicine, Histology and Embryology Unit, University of Pavia, Pavia, Italy.

Mutations in the diastrophic dysplasia sulphate transporter (dtdst) gene causes different forms of chondrodysplasia in the human. The generation of a knock-in mouse strain with a mutation in dtdst gene provides the basis to study developmental dynamics in the epiphyseal growth plate and long bone growth after impairment of the sulphate pathway. Our microscopical and histochemical data demonstrate that dtdst gene impairment deeply affects tissue organization, matrix structure, and cell differentiation in the epiphyseal growth plate. Read More

Ultrasound Obstet Gynecol 2009 Aug;34(2):160-70

Prenatal Medicine Munich, Munich, Germany.

Objective: To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center.

Methods: This was a retrospective database review of type, prenatal and definitive postnatal diagnoses and gestational age at specific prenatal diagnosis of all cases of skeletal dysplasias from a mixed referral and screening population between 1985 and 2007. Prenatal diagnoses were grouped into 'correct ultrasound diagnosis' (complete concordance with postnatal pediatric or pathological findings) or 'partially correct ultrasound diagnosis' (skeletal dysplasias found postnatally to be a different one from that diagnosed prenatally). Read More

Cases J 2009 Jan 13;2(1):45. Epub 2009 Jan 13.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

Introduction: [corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome.

Case Presentation: We report on a 2-year- old boy from Slovakia was born to non-consanguineous parents. Prenatal and postnatal growth parameters were normal. Read More

Am J Med Genet A 2008 Nov;146A(22):2920-4

Department of Medical Genetics, University of Wisconsin-Madison, Madison, WI 53705, USA.

We describe a child whose original clinical and radiologic manifestations led to a diagnosis of Desbuquois dysplasia. Subsequent development of features including cervical kyphosis and cystic ears caused us to reconsider the original diagnosis. The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia. Read More

Pediatr Radiol 2008 Dec 21;38(12):1345-9. Epub 2008 Aug 21.

Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada.

The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the level of residual transport capacity. Read More