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[PMID]: 29178448
[Au] Autor:Leal GF; Nishimura G; Voss U; Bertola DR; Åström E; Svensson J; Yamamoto GL; Hammarsjö A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
[Ad] Address:Centro Integrado de Saúde Amaury de Medeiros, Universidade de Pernambuco, Recife, Brazil.
[Ti] Title:Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
[So] Source:J Bone Miner Res;, 2017 Nov 27.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI. Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. In this report, we present six patients from four families with novel PLOD2 variants. All cases had multiple fractures. Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phenotype who were stillborn had compound heterozygous variants in PLOD2 (p.Asp585Val and p.Ser166*). One infant who succumbed at age 4 months had a bent bone phenotype phenotypically like skeletal dysplasia Kozlowski-Reardon (with mesomelic shortening, camptodactyly, retrognathia, cleft palate, skin dimples, but also with fractures). He was homozygous for the nonsense variant (p.Trp561*). Two siblings had various degrees of Bruck syndrome caused by the homozygous missense variant, p.His687Arg. Furthermore a boy with a clinical presentation of moderate OI had a possibly pathogenic homozygous variant p.Trp588Cys. Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes. © 2017 American Society for Bone and Mineral Research.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180109
[Lr] Last revision date:180109
[St] Status:Publisher
[do] DOI:10.1002/jbmr.3348

  2 / 269 MEDLINE  
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[PMID]: 28965976
[Au] Autor:Matsumoto A; Imagawa E; Miyake N; Ikeda T; Kobayashi M; Goto M; Matsumoto N; Yamagata T; Osaka H
[Ad] Address:Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
[Ti] Title:The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
[So] Source:Brain Dev;, 2017 Sep 28.
[Is] ISSN:1872-7131
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia. Cranial magnetic resonance imaging was normal at one month of age but showed ventriculomegaly, hydrocephaly, and the corpus callosum thinning at two years of age. Exome sequencing revealed a de novo novel mutation, c. 236A>C, p (Q79P), in SOX9. Sox9 is thought to be crucial in neural stem cell development in the central and peripheral nervous system along with Sox8 and Sox10 in mice. In humans, neuronal abnormalities have been reported in cases of CMPD and ACMPD, including relative macrocephaly in 11 out of 22 and mild lateral ventriculomegaly in 2 out of 22 patients. We encountered a two-year old boy with ACMPD presenting with tracheomalacia and macrocephaly with a SOX9 mutation. We described for the first time an ACMPD patient with acquired diminished white matter and corpus callosal thinning, indicating the failure of oligodendrocyte/astrocyte development postnatally. This phenotype suggests that SOX9 plays a crucial role in human central nervous system development. Further cases are needed to clarify the relationship between human neural development and SOX9 mutations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171002
[Lr] Last revision date:171002
[St] Status:Publisher

  3 / 269 MEDLINE  
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[PMID]: 28546996
[Au] Autor:von Bohlen AE; Böhm J; Pop R; Johnson DS; Tolmie J; Stücker R; Morris-Rosendahl D; Scherer G
[Ad] Address:Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.
[Ti] Title:A mutation creating an upstream initiation codon in the 5' UTR causes acampomelic campomelic dysplasia.
[So] Source:Mol Genet Genomic Med;5(3):261-268, 2017 May.
[Is] ISSN:2324-9269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around . CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the protein-coding sequence nor a translocation with breakpoint in the regulatory domain. We include functional studies of the novel mutant protein in vitro and in cultured cells. RESULTS: The patient was found to have a de novo heterozygous mutation c.-185G>A in the 5'UTR. The mutation creates an upstream translation start codon, uAUG, with a much better fit of its flanking sequence to the Kozak consensus than the wild-type AUG. By in vitro transcription-translation and transient transfection into COS-7 cells, we show that the uAUG leads to translation of a short peptide from a reading frame that terminates just after the wild-type AUG start codon. This results in reduced translation of the wild-type protein, compatible with the milder phenotype of the patient. CONCLUSION: Findings support the notion that more mildly affected, surviving CD/ACD patients carry mutant alleles with residual expression of SOX9 wild-type protein. Although rarely described in human genetic disease and for the first time here for CD, mutations creating upstream AUG codons may be more common than generally assumed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1002/mgg3.282

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[PMID]: 28447148
[Au] Autor:McDowell MM; Dede O; Bosch P; Tyler-Kabara EC
[Ad] Address:Department of Neurological Surgery, University of Pittsburgh, 200 Lothrop Street Suite 400B, Pittsburgh, PA, 15213, USA.
[Ti] Title:Absent pedicles in campomelic dysplasia.
[So] Source:Childs Nerv Syst;33(6):987-992, 2017 Jun.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:OBJECTIVES: The objective of the present study is to report a case of campomelic dysplasia illustrating the absence of cervical and thoracic pedicles. This report reiterates the importance of this clinical peculiarity in the setting of spine instrumentation. MATERIALS AND METHODS: A 10-year-old female patient with campomelic dysplasia presented with progressive kyphoscoliosis and signs of neural compromise. Imaging studies confirmed thoracic level stenosis and demonstrated absence of multiple pedicles in cervical and thoracic spine. The patient underwent decompression and instrumentation/fusion for her spinal deformity. RESULTS: The patient was instrumented between C2 and L4 with pedicle screws and sublaminar cables. However, pedicle fixation was not possible for the lower cervical and upper-mid thoracic spine. Also, floating posterior elements precluded the use of laminar fixation in the lower cervical spine. Cervicothoracic lumbosacral orthosis (CTLSO) was used for external immobilization to supplement the tenuous fixation in the cervicothoracic area. The patient improved neurologically with no signs of implant failure at the 2-year follow-up. CONCLUSIONS: Absence of pedicles and floating posterior elements present a challenge during spine surgery in campomelic dysplasia. Surgeons should prepare for alternative fixation methods and external immobilization when planning on spinal instrumentation in affected patients. LEVEL OF EVIDENCE: Level IV Case Report.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170926
[Lr] Last revision date:170926
[St] Status:In-Process
[do] DOI:10.1007/s00381-017-3375-4

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[PMID]: 28323209
[Au] Autor:Symon A; Harley V
[Ad] Address:Molecular Genetics and Development Laboratory, Hudson Institute of Medical Research, Melbourne, Australia; Department of Anatomy and Developmental Biology, Monash University, Melbourne, Australia.
[Ti] Title:SOX9: A genomic view of tissue specific expression and action.
[So] Source:Int J Biochem Cell Biol;87:18-22, 2017 Jun.
[Is] ISSN:1878-5875
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The SOX9 transcription factor controls the differentiation of many cell types among vertebrates. The SOX9 gene locus is large and complex and contains various tissue-specific enhancers. Individual enhancers direct specific expression of SOX9 in chondrocytes, Sertoli cells and cranial neural crest cells. Human SOX9 mutations can lead to either the complete Campomelic Dysplasia syndrome, or isolated clinical features, depending upon whether the mutation occurs in the coding region or in enhancer regions. Chromatin Immunoprecipitation has helped to define SOX9 control of target gene expression at the genome wide level in hair follicle stem cells and in chondrocytes where SOX9 binds at super-enhancers. SOX9 binding proximal to promoters controls basal cell activity whereas cell type specificity is directed from distal enhancers.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170526
[Lr] Last revision date:170526
[St] Status:In-Process

  6 / 269 MEDLINE  
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[PMID]: 28166224
[Au] Autor:Hall MD; Murray CA; Valdez MJ; Perantoni AO
[Ad] Address:The Cancer and Developmental Biology Laboratory, National Cancer Institute-Frederick, Frederick, Maryland, United States of America.
[Ti] Title:Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.
[So] Source:PLoS Genet;13(2):e1006610, 2017 Feb.
[Is] ISSN:1553-7404
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:To date, mutations within the coding region and translocations around the SOX9 gene both constitute the majority of genetic lesions underpinning human campomelic dysplasia (CD). While pathological coding-region mutations typically result in a non-functional SOX9 protein, little is known about what mechanism(s) controls normal SOX9 expression, and subsequently, which signaling pathways may be interrupted by alterations occurring around the SOX9 gene. Here, we report the identification of Stat3 as a key modulator of Sox9 expression in nascent cartilage and developing chondrocytes. Stat3 expression is predominant in tissues of mesodermal origin, and its conditional ablation using mesoderm-specific TCre, in vivo, causes dwarfism and skeletal defects characteristic of CD. Specifically, Stat3 loss results in the expansion of growth plate hypertrophic chondrocytes and deregulation of normal endochondral ossification in all bones examined. Conditional deletion of Stat3 with a Sox9Cre driver produces palate and tracheal irregularities similar to those described in Sox9+/- mice. Furthermore, mesodermal deletion of Stat3 causes global embryonic down regulation of Sox9 expression and function in vivo. Mechanistic experiments ex vivo suggest Stat3 can directly activate the expression of Sox9 by binding to its proximal promoter following activation. These findings illuminate a novel role for Stat3 in chondrocytes during skeletal development through modulation of a critical factor, Sox9. Importantly, they further provide the first evidence for the modulation of a gene product other than Sox9 itself which is capable of modeling pathological aspects of CD and underscore a potentially valuable therapeutic target for patients with the disorder.
[Mh] MeSH terms primary: Campomelic Dysplasia/genetics
SOX9 Transcription Factor/genetics
STAT3 Transcription Factor/genetics
[Mh] MeSH terms secundary: Animals
Campomelic Dysplasia/pathology
Cell Differentiation/genetics
Chondrocytes/metabolism
Chondrocytes/pathology
Chondrogenesis/genetics
Disease Models, Animal
Gene Expression Regulation, Developmental
Humans
Mesoderm/growth & development
Mesoderm/pathology
Mice
Mice, Transgenic
Osteogenesis/genetics
Phenotype
SOX9 Transcription Factor/biosynthesis
STAT3 Transcription Factor/metabolism
Signal Transduction
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (SOX9 Transcription Factor); 0 (STAT3 Transcription Factor); 0 (Sox9 protein, mouse); 0 (Stat3 protein, mouse)
[Em] Entry month:1705
[Cu] Class update date: 170523
[Lr] Last revision date:170523
[Js] Journal subset:IM
[Da] Date of entry for processing:170207
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006610

  7 / 269 MEDLINE  
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[PMID]: 28085555
[Au] Autor:Smyk M; Akdemir KC; Stankiewicz P
[Ad] Address:a Department of Medical Genetics , Institute of Mother and Child , Warsaw , Poland.
[Ti] Title:SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.
[So] Source:Nucleus;8(2):182-187, 2017 Mar 04.
[Is] ISSN:1949-1042
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Evolutionary conserved transcription factor SOX9, encoded by the dosage sensitive SOX9 gene on chromosome 17q24.3, plays an important role in development of multiple organs, including bones and testes. Heterozygous point mutations and genomic copy-number variant (CNV) deletions involving SOX9 have been reported in patients with campomelic dysplasia (CD), a skeletal malformation syndrome often associated with male-to-female sex reversal. Balanced and unbalanced structural genomic variants with breakpoints mapping up to 1.3 Mb up- and downstream to SOX9 have been described in patients with milder phenotypes, including acampomelic campomelic dysplasia, sex reversal, and Pierre Robin sequence. Based on the localization of breakpoints of genomic rearrangements causing different phenotypes, 5 genomic intervals mapping upstream to SOX9 have been defined. We have analyzed the publically available database of high-throughput chromosome conformation capture (Hi-C) in multiple cell lines in the genomic regions flanking SOX9. Consistent with the literature data, chromatin domain boundaries in the SOX9 locus exhibit conservation across species and remain largely constant across multiple cell types. Interestingly, we have found that chromatin folding domains in the SOX9 locus associate with the genomic intervals harboring real and putative regulatory elements of SOX9, implicating that variation in intra-domain interactions may be critical for dynamic regulation of SOX9 expression in a cell type-specific fashion. We propose that tissue-specific enhancers for other transcription factor genes may similarly utilize chromatin folding sub-domains in gene regulation.
[Mh] MeSH terms primary: Chromatin/chemistry
Chromatin/metabolism
Regulatory Sequences, Nucleic Acid
SOX9 Transcription Factor/genetics
[Mh] MeSH terms secundary: Campomelic Dysplasia/genetics
Cell Line
Chromatin/genetics
Chromosomes, Human/genetics
Gene Expression Regulation
Humans
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Chromatin); 0 (SOX9 Transcription Factor)
[Em] Entry month:1704
[Cu] Class update date: 170504
[Lr] Last revision date:170504
[Js] Journal subset:IM
[Da] Date of entry for processing:170114
[St] Status:MEDLINE
[do] DOI:10.1080/19491034.2017.1279776

  8 / 269 MEDLINE  
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[PMID]: 27881841
[Au] Autor:Guo L; Elcioglu NH; Iida A; Demirkol YK; Aras S; Matsumoto N; Nishimura G; Miyake N; Ikegawa S
[Ad] Address:Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
[Ti] Title:Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
[So] Source:J Hum Genet;62(3):447-451, 2017 Mar.
[Is] ISSN:1435-232X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Recently, mutations in the gene encoding xylosyltransferase 1 (XYLT1) were identified in several families with DBQD2. In this study, we performed whole-exome sequencing in two Turkish families with DBQD2. We found a novel and a recurrent XYLT1 mutation in each family. The patients were homozygous for the mutations. Our results further support that XYLT1 is responsible for a major subset of DBQD2.
[Mh] MeSH terms primary: Achondroplasia/genetics
Campomelic Dysplasia/genetics
Cleft Palate/genetics
Joint Instability/genetics
Mutation
Pentosyltransferases/genetics
[Mh] MeSH terms secundary: Achondroplasia/diagnostic imaging
Achondroplasia/pathology
Bone and Bones/abnormalities
Bone and Bones/diagnostic imaging
Bone and Bones/metabolism
Campomelic Dysplasia/diagnostic imaging
Campomelic Dysplasia/pathology
Child
Cleft Palate/diagnostic imaging
Cleft Palate/pathology
Consanguinity
Exome
Family
Female
Gene Expression
Homozygote
Humans
Infant
Joint Instability/diagnostic imaging
Joint Instability/pathology
Radiography
Sequence Analysis, DNA
Turkey
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 2.4.2.- (Pentosyltransferases); EC 2.4.2.26 (UDP xylose-protein xylosyltransferase)
[Em] Entry month:1705
[Cu] Class update date: 170515
[Lr] Last revision date:170515
[Js] Journal subset:IM
[Da] Date of entry for processing:161125
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.143

  9 / 269 MEDLINE  
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[PMID]: 27128146
[Au] Autor:Lefebvre V; Dvir-Ginzberg M
[Ad] Address:a Department of Cellular and Molecular Medicine , Cleveland Clinic Lerner Research Institute , Cleveland , OH , USA.
[Ti] Title:SOX9 and the many facets of its regulation in the chondrocyte lineage.
[So] Source:Connect Tissue Res;58(1):2-14, 2017 Jan.
[Is] ISSN:1607-8438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:SOX9 is a pivotal transcription factor in developing and adult cartilage. Its gene is expressed from the multipotent skeletal progenitor stage and is active throughout chondrocyte differentiation. While it is repressed in hypertrophic chondrocytes in cartilage growth plates, it remains expressed throughout life in permanent chondrocytes of healthy articular cartilage. SOX9 is required for chondrogenesis: it secures chondrocyte lineage commitment, promotes cell survival, and transcriptionally activates the genes for many cartilage-specific structural components and regulatory factors. Since heterozygous mutations within and around SOX9 were shown to cause the severe skeletal malformation syndrome called campomelic dysplasia, researchers around the world have worked assiduously to decipher the many facets of SOX9 actions and regulation in chondrogenesis. The more we learn, the more we realize the complexity of the molecular networks in which SOX9 fulfills its functions and is regulated at the levels of its gene, RNA, and protein, and the more we measure the many gaps remaining in knowledge. At the same time, new technologies keep giving us more means to push further the frontiers of knowledge. Research efforts must be pursued to fill these gaps and to better understand and treat many types of cartilage diseases in which SOX9 has or could have a critical role. These diseases include chondrodysplasias and cartilage degeneration diseases, namely osteoarthritis, a prevalent and still incurable joint disease. We here review the current state of knowledge of SOX9 actions and regulation in the chondrocyte lineage, and propose new directions for future fundamental and translational research projects.
[Mh] MeSH terms primary: Cell Differentiation
Chondrocytes/metabolism
Chondrogenesis
Gene Expression Regulation
SOX9 Transcription Factor/metabolism
Transcription, Genetic
[Mh] MeSH terms secundary: Animals
Campomelic Dysplasia/genetics
Campomelic Dysplasia/metabolism
Campomelic Dysplasia/pathology
Chondrocytes/pathology
Humans
SOX9 Transcription Factor/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (SOX9 Transcription Factor); 0 (SOX9 protein, human)
[Em] Entry month:1708
[Cu] Class update date: 170810
[Lr] Last revision date:170810
[Js] Journal subset:IM
[Da] Date of entry for processing:160430
[St] Status:MEDLINE
[do] DOI:10.1080/03008207.2016.1183667

  10 / 269 MEDLINE  
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[PMID]: 28040117
[Au] Autor:Tonni G; Palmisano M; Lituania M; Grisolia G; Baffico AM; Bonasoni MP; Pattacini P; De Felice C; Araujo Júnior E
[Ad] Address:Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, AUSL (Azienda Unità Sanitaria Locale) Reggio Emilia, Italy. Electronic address: tonnig@ausl.re.it.
[Ti] Title:Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.
[So] Source:Taiwan J Obstet Gynecol;55(6):771-776, 2016 Dec.
[Is] ISSN:1875-6263
[Cp] Country of publication:China (Republic : 1949- )
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. CONCLUSION: Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.
[Mh] MeSH terms primary: Algorithms
Campomelic Dysplasia/diagnosis
Femur/abnormalities
Lymphocele/diagnosis
Multicystic Dysplastic Kidney/diagnosis
Osteogenesis Imperfecta/diagnosis
Pierre Robin Syndrome/diagnosis
Prenatal Diagnosis
Spleen/abnormalities
[Mh] MeSH terms secundary: Abnormalities, Multiple
Adult
Campomelic Dysplasia/genetics
Fatal Outcome
Female
Femur/diagnostic imaging
Fetal Diseases
Humans
Lymphocele/genetics
Male
Multicystic Dysplastic Kidney/genetics
Osteogenesis Imperfecta/genetics
Pierre Robin Syndrome/genetics
Pregnancy
Radiography
Tibia/abnormalities
Tibia/diagnostic imaging
Tomography, X-Ray Computed
Ultrasonography, Prenatal
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170713
[Lr] Last revision date:170713
[Js] Journal subset:IM
[Da] Date of entry for processing:170102
[St] Status:MEDLINE


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