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Review

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

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Pages 31-44 | Published online: 20 Apr 2018

References

  • IrvingMDChittyLSMansourSHallCMChondrodysplasia punctata: a clinical diagnostic and radiological reviewClin Dysmorphol200817422924118978650
  • BravermanaNERaymondbGVRizzocWBPeroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelinesMol Genet Metab2016117331332126750748
  • DelilleHKBonekampNASchraderMPeroxisomes and disease – an overviewInt J Biomed Sci20062430831423674998
  • PorterFDHermanGEMalformation syndromes caused by disorders of cholesterol synthesisJ Lipid Res201052163420929975
  • RossiMHallCMBouvierRRadiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisPediatr Radiol201545796597625646736
  • MorrisonSCPunctate epiphyses associated with Turner syndromePediatr Radiol199929647848010369911
  • PerezMJSchneiderAChazeAMEpiphyseal punctate calcifications (stippling) in complete trisomy 9Prenat Diagn200929111085108819777540
  • SathienkijkanchaiAWasantPFetal warfarin syndromeJ Med Assoc Thail200588Suppl 8S246S250
  • TadrosRShakibSWarfarin – indications, risks and drug interactionsAust Fam Physician201039647647920628660
  • ShearerMJNewmanPMetabolism and cell biology of vitamin KThromb Haemost2008100453054718841274
  • TorielloHVErickMAlessandriJLMaternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseAm J Med Genet Part A20131613417429
  • MengerHLinAETorielloHVBernertGSprangerJWVitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolismAm J Med Genet19977221291349382132
  • Brunetti-PierriNAndreucciMVTuzziRX-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variabilityAm J Med Genet A2003117A216416812567415
  • CurryCJRMicekMBertkenRReichlinMChondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology?Presented at the David W. Smith Workshop on Morphogenesis and MalformationsMont Tremblant, QuebecAugust 1993
  • CostaTTillerGChitayatDSilvermanEMaternal systemic lupus erythematosus (SLE) and chondrodysplasia punctata in two infantsCoincidence or association?presented at Bone Dysplasia Society meetingChicagoJune 1993
  • PetriMOrbaiA-MAlarcónGSDerivationand validation of the systemic lupus international collaborating clinics classification criteria for systemic lupus erythematosusArthritis Rheum20126482677268622553077
  • LeeLAThe clinical spectrum of neonatal lupusArch Dermatol Res2009301110711018797891
  • McCuistionCHSchochEPJrPossible discoid lupus erythematosus in newborn infant; report of a case with subsequent development of acute systemic lupus erythematosus in motherArch Dermatol Syphilol1954706781785
  • ChitayatDKeatingSZandDJChondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight casesAm J Med Genet A20081462330383053
  • MansourSLibermanDYoungIBrachytelephalangic chondrodysplasia punctata in an extremely premature infantAm J Med Genet199453181827802043
  • ElciogluNHallCMMaternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?J Med Genet19983586906949719382
  • Austin-WardECastilloSCuchacovichMNeonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestationsJ Med Genet19983586956979719383
  • KellyTEAlfordBAGreerKMChondrodysplasia punctata stemming from maternal lupus erythematosusAm J Med Genet199983539740110232751
  • KozlowskiKBaselDBeightonPChondrodysplasia punctata in siblings and maternal lupus erythematosusClin Genet200466654554915521983
  • ShanskeALBernsteinLHerzogRChondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literaturePediatrics20071202e436e44117671048
  • Tim-aroonTJaovisidhaSWattanasirichaigoonDA new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomaliesAm J Med Genet A2011155614871491
  • RoyADePChakrabortySRhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosusIndian Pediatr201350660560723942406
  • SharpGCTanEMGouldRGHolmanHRMixed connective tissue disease – an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA)Am J Med19725221481594621694
  • Ortega-HernandezODShoenfeldYMixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatmentBest Pr Res Clin Rheumatol20122616172
  • SchulzSWBoberMJohnsonCBravermanNJimenezSAMaternal mixed connective tissue disease and offspring with chondrodysplasia punctataSemin Arthritis Rheum201039541041619110299
  • MartinVLeeLAAskanaseADKatholiMBuyonJPLong-term followup of children with neonatal lupus and their unaffected siblingsArthritis Rheum20024692377238312355485
  • TorielloHVChondrodysplasia punctata and maternal systemic lupus erythematosusJ Med Genet19983586986999719384
  • ZuppaAARiccardiRFrezzaSGalliniFNeonatal lupus: follow-up in infants with anti-SSA/Ro antibodies and review of the literatureAutoimmun Rev201716442743228212920
  • YamaguchiMWeitzmannMNVitamin K2 stimulates osteoblastogenesis and suppresses osteoclastogenesis by suppressing NF-κB activationInt J Mol Med201127131421072493
  • YagamiKSuhJYEnomoto-IwamotoMMatrix GLA protein is a developmental regulator of chondrocyte mineralization and, when constitutively expressed, blocks endochondral and intramembranous ossification in the limbJ Cell Biol199914751097110810579728
  • LianJBGundbergCMOsteocalcin – biochemical consideration and clinical applicationClin Orthop Relat Res1988226267291
  • PauliRMLianJBMosherDFSuttieJWAssociation of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivativesAm J Hum Genet19874145665833499071
  • LuoGDucyPMcKeeMDSpontaneous calcification of arteries and cartilage in mice lacking matrix GLA proteinNature19976386662078819052783
  • WeaverKNEl HallekMHopkinRJKeutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritisAm J Med Genet A2014164410621068
  • OyoungJLiaoYXiaoYMatrix gla protein inhibits ectopic calcification by a direct interaction with hydroxyapatite crystalsJ Am Chem Soc201113345184061841221961692
  • SchurgersLJSpronkHMSkepperJNPost-translational modifications regulate matrix Gla protein function: importance for inhibition of vascular smooth muscle cell calcificationJ Thromb Haemost20075122503251117848178
  • FrancoBMeroniGParentiGA cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyCell199581115257720070