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[PMID]: 29381487
[Au] Autor:Yu KPT; Luk HM; Gordon CT; Fung G; Oufadem M; Garcia-Barcelo MM; Amiel J; Chung BHY; Lo IFM; Tiong YT
[Ad] Address:Clinical Genetic Service, Department of Health.
[Ti] Title:Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
[So] Source:Clin Dysmorphol;27(2):31-35, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA. To date, there have been a total of 108 individuals reported in the literature, of whom 95 patients have a confirmed EFTUD2 mutation. The majority of individuals reported in the literature have been of White ethnic origin. Here, we report two individuals of Asian ancestry with MFDGA, each harboring a novel, pathogenic splice site variant in EFTUD2.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000214

  2 / 1499 MEDLINE  
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[PMID]: 29344614
[Au] Autor:Tollefson TT
[Ad] Address:Otolaryngology-Head and Neck Surgery, University of California, Davis, Sacramento, California.
[Ti] Title:Apprehending Otherness Through Wonder: A Facial Plastic Surgeon's Review of the Book and Movie.
[So] Source:JAMA;319(7):640-642, 2018 Feb 20.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Literature, Modern
Mandibulofacial Dysostosis
Medicine in Literature
Medicine in the Arts
Motion Pictures
[Mh] MeSH terms secundary: Child
Humans
Interpersonal Relations
Male
Mandibulofacial Dysostosis/psychology
Mandibulofacial Dysostosis/surgery
Surgery, Plastic
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180119
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.22109

  3 / 1499 MEDLINE  
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[PMID]: 29198722
[Au] Autor:Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken L; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J; DDD Study
[Ad] Address:Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.
[Ti] Title:A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
[So] Source:Am J Hum Genet;101(6):995-1005, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations. We show that the c.2737C>T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes.
[Mh] MeSH terms primary: DNA-Binding Proteins/genetics
Intellectual Disability/genetics
Neurocognitive Disorders/genetics
[Mh] MeSH terms secundary: Central Nervous System/abnormalities
Central Nervous System/embryology
Codon, Nonsense/genetics
High-Throughput Nucleotide Sequencing
Humans
Limb Deformities, Congenital/genetics
Mandibulofacial Dysostosis/genetics
Peripheral Nervous System/abnormalities
Peripheral Nervous System/enzymology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (DNA-Binding Proteins); 0 (ZSWIM6 protein, human)
[Em] Entry month:1801
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171205
[St] Status:MEDLINE

  4 / 1499 MEDLINE  
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[PMID]: 29307790
[Au] Autor:Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
[Ad] Address:Department of Biology and Medical Genetics, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: Jana.Paderova@sinaihealthsystem.ca.
[Ti] Title:Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
[So] Source:Eur J Med Genet;, 2018 Jan 04.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal genetic variation using array comparative genome hybridization and a Mendeliome analysis, utilizing targeted exome analysis focusing on regions harboring rare disease-causing variants in Kabuki-like patients which remained KMT2D/KDM6A-negative. The aCGH analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing revealed pathogenic variants in genes associated with intellectual disability (HUWE1, GRIN1), including a gene coding for mandibulofacial dysostosis with microcephaly (EFTUD2). Lower values of the MLL2-Kabuki phenotypic score are indicative of Kabuki-like phenotype (rather than true Kabuki syndrome), where aCGH and Mendeliome analyses have high diagnostic yield. Based on our findings we conclude that for new patients with Kabuki-like phenotypes it is possible to choose a specific molecular testing approach that has the highest detection rate for a given MLL2-Kabuki score, thus fostering more precise patient diagnosis and improved management in these genetically- and phenotypically heterogeneous clinical entities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180210
[Lr] Last revision date:180210
[St] Status:Publisher

  5 / 1499 MEDLINE  
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[PMID]: 28468148
[Au] Autor:Ligh CA; Swanson J; Yu JW; Samra F; Bartlett SP; Taylor JA
[Ad] Address:*Division of Plastic and Reconstructive Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA †Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Southern California, Los Angeles, CA.
[Ti] Title:A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.
[So] Source:J Craniofac Surg;28(3):683-687, 2017 May.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle). Each category was graded from I to IV and a composite mandible classification was determined by the median value among the 3 component grades. RESULTS: Twenty patients with TCS, aged 1 month to 20 years, with at least one 3D-CT prior to mandibular surgery were studied. Overall, 33 3D-CTs were evaluated and ordered from least to most severe phenotype with 10 (30%) Grade 1 (least severe), 14 (42%) Grade 2, 7 (21%) Grade 3, and 2 (7%) Grade 4 (most severe). Seven patients had at least 2 longitudinal scans encompassing an average 5.7 (range 5-11) years of growth. Despite increasing age, mandibular classification (both components and composite) remained stable in those patients over time (P = 0.2182). CONCLUSION: The authors present a classification scheme for the TCS mandible based on degree of condylar hypoplasia, mandibular plane angle (Co-Go-Me angle), and retrognathia (SNB angle). While there is a natural progression of the mandibular morphology with age, patients followed longitudinally demonstrate consistency in their classification. Further work is needed to determine the classification scheme's validity, generalizability, and overall utility.
[Mh] MeSH terms primary: Malocclusion/surgery
Mandibulofacial Dysostosis/classification
Mandibulofacial Dysostosis/surgery
[Mh] MeSH terms secundary: Adolescent
Cephalometry/methods
Child
Child, Preschool
Female
Humans
Imaging, Three-Dimensional
Infant
Male
Malocclusion/classification
Malocclusion/diagnosis
Mandible/abnormalities
Mandibulofacial Dysostosis/diagnosis
Retrognathia/classification
Retrognathia/diagnosis
Retrognathia/surgery
Retrospective Studies
Tomography, X-Ray Computed/methods
Tooth Abnormalities/classification
Tooth Abnormalities/diagnosis
Tooth Abnormalities/surgery
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180126
[Lr] Last revision date:180126
[Js] Journal subset:D
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003470

  6 / 1499 MEDLINE  
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[PMID]: 27777025
[Au] Autor:Tse WK
[Ad] Address:Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address: kftse@agr.kyushu-u.ac.jp.
[Ti] Title:Treacher Collins syndrome: New insights from animal models.
[So] Source:Int J Biochem Cell Biol;81(Pt A):44-47, 2016 12.
[Is] ISSN:1878-5875
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al., 2016; Noack Watt et al., 2016) and discussed the possibility of using the anti-oxidants to prevent or rescue the TCS facial phenotype (Sakai et al., 2016). Taken together, this article provides an update on the disease from basic information to pathogenesis, and further summarizes the suggested therapies from recent laboratory research.
[Mh] MeSH terms primary: Mandibulofacial Dysostosis
[Mh] MeSH terms secundary: Animals
Disease Models, Animal
Humans
Mandibulofacial Dysostosis/drug therapy
Mandibulofacial Dysostosis/etiology
Mandibulofacial Dysostosis/metabolism
Molecular Targeted Therapy
[Pt] Publication type:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1711
[Cu] Class update date: 171217
[Lr] Last revision date:171217
[Js] Journal subset:IM
[Da] Date of entry for processing:161106
[St] Status:MEDLINE

  7 / 1499 MEDLINE  
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[PMID]: 28797104
[Au] Autor:Zhang Y; Wei QS; Ding WB; Zhang LL; Wang HC; Zhu YJ; He W; Chai YN; Liu YW
[Ad] Address:Medical Centre of Hip, Luoyang Orthopaedic-Traumatological Hospital (Orthopaedic Hospital of Henan Province), Luoyang, China.
[Ti] Title:Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2.
[So] Source:PLoS One;12(8):e0182678, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Trauma-induced osteonecrosis of the femoral head (TIONFH) is a major complication of femoral neck fractures. Degeneration and necrosis of subchondral bone can cause collapse, which results in hip joint dysfunction in patients. The destruction of bone metabolism homeostasis is an important factor for osteonecrosis. MicroRNAs (miRNAs) have an important role in regulating osteogenic differentiation, but the mechanisms underlying abnormal bone metabolism of TIONFH are poorly understood. In this study, we screened specific miRNAs in TIONFH by microarray and further explored the mechanism of osteogenic differentiation. DESIGN: Blood samples from patients with TIONFH and patients without necrosis after trauma were compared by microarray, and bone collapse of necrotic bone tissue was evaluated by micro-CT and immunohistochemistry. To confirm the relationship between miRNA and osteogenic differentiation, we conducted cell culture experiments. We found that many miRNAs were significantly different, including miR-93-5p; the increase in this miRNA was verified by Q-PCR. Comparison of the tissue samples showed that miR-93-5p expression increased, and alkaline phosphatase (ALP) and osteopontin (OPN) levels decreased, suggesting miR-93-5p may be involved in osteogenic differentiation. Further bioinformatics analysis indicated that miR-93-5p can target bone morphogenetic protein 2 (BMP-2). A luciferase gene reporter assay was performed to confirm these findings. By simulating and/or inhibiting miR-93-5p expression in human bone marrow mesenchymal stem cells, we confirmed that osteogenic differentiation-related indictors, including BMP-2, Osterix, Runt-related transcription factor, ALP and OPN, were decreased by miR-93-5p. CONCLUSION: Our study showed that increased miR-93-5p in TIONFH patients inhibited osteogenic differentiation, which may be associated with BMP-2 reduction. Therefore, miR-93-5p may be a potential target for prevention of TIONFH.
[Mh] MeSH terms primary: Bone Morphogenetic Protein 2/genetics
Femoral Neck Fractures/metabolism
Femur Head Necrosis/metabolism
MicroRNAs/physiology
Osteogenesis
[Mh] MeSH terms secundary: Abnormalities, Multiple
Adult
Base Sequence
Binding Sites
Bone Morphogenetic Protein 2/metabolism
Female
Femoral Neck Fractures/complications
Femoral Neck Fractures/pathology
Femur Head Necrosis/etiology
Femur Head Necrosis/pathology
HEK293 Cells
Humans
Limb Deformities, Congenital
Male
Mandibulofacial Dysostosis
Micrognathism
Middle Aged
Osteoblasts/physiology
RNA Interference
Sequence Analysis, DNA
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (BMP2 protein, human); 0 (Bone Morphogenetic Protein 2); 0 (MIRN93 microRNA, human); 0 (MicroRNAs)
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[Js] Journal subset:IM
[Da] Date of entry for processing:170811
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0182678

  8 / 1499 MEDLINE  
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[PMID]: 28688869
[Au] Autor:Wu CC; Sakahara D; Imai K
[Ad] Address:Craniofacial Center, Division of Plastic and Reconstructive Surgery, Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taiwan.
[Ti] Title:Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.
[So] Source:J Plast Reconstr Aesthet Surg;70(10):1449-1456, 2017 Oct.
[Is] ISSN:1878-0539
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. However, mandibular distraction osteogenesis has some complications such as relapse, teeth injury, infection, and injury of the temporomandibular joints (TMJs). In this study, the author reported two patients with Nager syndrome who suffered from ankylosis of TMJs after mandibular distraction osteogenesis. In addition, a comprehensive literature review of post-distraction ankylosis of TMJs in patients with Nager syndrome was performed. Few studies demonstrated the condition of TMJs after mandibular distraction osteogenesis, and three studies were identified from the review. One study reported ankylosis of bilateral coronoid processes, in which coronoidectomies were necessary. Another study reported the use of prostheses to replace the ankylosed joints in a patient who had undergone many surgeries of the joints, such as gap arthroplasties, reconstructions with costochondral grafts, etc. One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis. It seems that multiple factors are related to the ankylosis of TMJs after mandibular distraction osteogenesis in patients with Nager syndrome. Prevention of post-distraction ankylosis of the joints is important because the treatment is difficult and not always effective. We should conduct more studies about protection of the joints during mandibular distraction in the future.
[Mh] MeSH terms primary: Mandibulofacial Dysostosis/complications
Micrognathism
Osteogenesis, Distraction/adverse effects
Temporomandibular Joint
[Mh] MeSH terms secundary: Adolescent
Ankylosis/etiology
Child
Female
Humans
Male
Mandible/surgery
Micrognathism/etiology
Micrognathism/surgery
Osteogenesis, Distraction/methods
Reoperation/methods
Temporomandibular Joint/diagnostic imaging
Temporomandibular Joint/pathology
Temporomandibular Joint/physiopathology
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 170928
[Lr] Last revision date:170928
[Js] Journal subset:IM
[Da] Date of entry for processing:170710
[St] Status:MEDLINE

  9 / 1499 MEDLINE  
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[PMID]: 28643921
[Au] Autor:Rengasamy Venugopalan S; Farrow EG; Lypka M
[Ad] Address:School of Dentistry, University of Missouri - Kansas City, Kansas City, MO, USA.
[Ti] Title:Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
[So] Source:Orthod Craniofac Res;20 Suppl 1:50-56, 2017 Jun.
[Is] ISSN:1601-6343
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings. The objective of this study was to demonstrate the critical role of whole-exome sequencing in establishing a genetic diagnosis of the proband. SETTING AND SAMPLE POPULATION: The participants were 14½-year-old affected female proband/parent trio. MATERIALS AND METHODS: Proband/parent trio were enrolled in the study. Surgical tissue sample from the proband and parental blood samples were collected and prepared for whole-exome sequencing. Illumina HiSeq 2500 instrument was used for sequencing (125 nucleotide reads/84X coverage). Analyses of variants were performed using custom-developed software, RUNES and VIKING. RESULTS: Variant analyses following whole-exome sequencing identified a heterozygous de novo pathogenic variant, c.259C>T (p.Gln87*), in EFTUD2 (NM_004247.3) gene in the proband. Previous studies have reported that the variants in EFTUD2 gene were associated with Mandibulofacial Dysostosis with Microcephaly. CONCLUSION: Patients with facial asymmetry, micrognathia, choanal atresia and microcephaly should be analyzed for variants in EFTUD2 gene. Next-generation sequencing techniques, such as whole-exome sequencing offer great promise to improve the understanding of etiologies of sporadic genetic diseases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170623
[Lr] Last revision date:170623
[St] Status:In-Process
[do] DOI:10.1111/ocr.12150

  10 / 1499 MEDLINE  
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[PMID]: 28612151
[Au] Autor:Williams LA; Quinonez SC; Uhlmann WR
[Ad] Address:Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
[Ti] Title:The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
[So] Source:J Genet Couns;, 2017 Jun 13.
[Is] ISSN:1573-3599
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family's clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p.Met433Valfs*17), add to the literature about MFDM. This case presented several genetic counseling challenges and highlights that "the patient" can be multiple family members. We discuss testing considerations for an unknown disorder complicated by the time constraint of the patient's daughter's pregnancy and how the diagnosis changed previously provided recurrence risks. Of note, 1) the 1980s clinic visit letters provided critical information about affected family members and 2) the patient's husband's internet search of his wife's clinical features also yielded the MFDM diagnosis, illustrating the power of the internet in the hands of patients. Ultimately, this case emphasizes the importance of re-evaluation given advances in genetics and the value of a genetic diagnosis for both patient care and risk determination for family members.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170905
[Lr] Last revision date:170905
[St] Status:Publisher
[do] DOI:10.1007/s10897-017-0119-2


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