Výsledky vyhledávání - "Ectodermal Dysplasia"

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Autoři: Doğan Arı AB Türkyılmaz A Kolkıran A a další

Zdroj: European journal of pediatrics [Eur J Pediatr] 2025 Oct 08; Vol. 184 (11), pp. 667. Date of Electronic Publication: 2025 Oct 08.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/diagnosis, Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; Exome Sequencing ; Adolescent ; Genetic Association Studies ; Phenotype ; Mutation ; Edar Receptor/genetics ; Genetic Testing ; Ectodysplasins/genetics

Hypohidrotic ectodermal dysplasia: association between EDA mutations and hypotrichosis - a case series.

Autoři: Li Y Zeng Q Cao QY a další

Zdroj: European journal of dermatology : EJD [Eur J Dermatol] 2025 Oct 01; Vol. 35 (5), pp. 401-407.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 9206420 Publication Model: Print Cited Medium: Internet ISSN: 1952-4013 (Electronic) Linking ISSN: 11671122 NLM ISO Abbreviation: Eur J Dermatol Subsets: MEDLINE

Výrazy ze slovníku MeSH: Hypotrichosis*/genetics , Ectodysplasins*/genetics , Mutation* , Ectodermal Dysplasia 1, Anhidrotic*/genetics , Ectodermal Dysplasia 1, Anhidrotic*/complications, Humans ; Male ; Female ; Edar Receptor/genetics ; Child ; NF-KappaB Inhibitor alpha/genetics ; Child, Preschool ; Phenotype ; Exome Sequencing ; DNA Copy Number Variations ; Adolescent

Outcomes of dental implant treatment in 3-18 year old children with ectodermal dysplasia: a systematic review spanning three decades.

Autoři: Zhu S Chen R Zhang S a další

Zdroj: BMC oral health [BMC Oral Health] 2025 Nov 21; Vol. 25 (1), pp. 1818. Date of Electronic Publication: 2025 Nov 21.

Způsob vydávání: Journal Article; Systematic Review

Informace o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/complications , Dental Implants*, Humans ; Child ; Adolescent ; Child, Preschool ; Treatment Outcome

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.

Autoři: Thaweesapphithak S Krasaesin A Prommanee S a další

Zdroj: BMC oral health [BMC Oral Health] 2025 Nov 04; Vol. 25 (1), pp. 1737. Date of Electronic Publication: 2025 Nov 04.

Způsob vydávání: Journal Article; Scoping Review; Case Reports

Informace o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/diagnosis , Ectodermal Dysplasia*/genetics , Edar Receptor*/genetics, Female ; Humans ; Male ; Mutation ; Phenotype ; Southeast Asian People/genetics ; Thailand

Application of digital virtual simulated design in the prosthodontic rehabilitation of a child with a novel EDA mutation in ectodermal dysplasia: A clinical report.

Autoři: Yang C Chen W Gao J a další

Zdroj: The Journal of prosthetic dentistry [J Prosthet Dent] 2025 Nov; Vol. 134 (5), pp. 1384-1390. Date of Electronic Publication: 2024 Aug 15.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Mosby-Year Book Country of Publication: United States NLM ID: 0376364 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6841 (Electronic) Linking ISSN: 00223913 NLM ISO Abbreviation: J Prosthet Dent Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/rehabilitation , Ectodysplasins*/genetics , Denture Design*/methods , Dental Prosthesis Design*, Humans ; Child ; Cone-Beam Computed Tomography ; Male ; Denture, Partial, Removable ; Mutation ; Crowns ; Computer-Aided Design ; Esthetics, Dental

Aplasia Cutis: From Diagnosis to Management-2 Decades of Clinical Insights.

Autoři: Ron O Farber I Retchkiman M a další

Zdroj: Plastic and reconstructive surgery [Plast Reconstr Surg] 2025 Nov 01; Vol. 156 (5), pp. 688e-694e. Date of Electronic Publication: 2025 Apr 01.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 1306050 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-4242 (Electronic) Linking ISSN: 00321052 NLM ISO Abbreviation: Plast Reconstr Surg Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/diagnosis , Ectodermal Dysplasia*/mortality , Ectodermal Dysplasia*/surgery , Ectodermal Dysplasia*/therapy , Ectodermal Dysplasia*/classification, Humans ; Retrospective Studies ; Female ; Male ; Scalp/surgery ; Scalp/abnormalities ; Child, Preschool ; Infant ; Treatment Outcome ; Infant, Newborn ; Child ; Adolescent ; Adult ; Young Adult ; Severity of Illness Index ; Scalp Dermatoses/congenital ; Limb Deformities, Congenital

SCR Disease Name: Adams Oliver syndrome

Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndrome.

Autoři: Solano AF Preusse K Cain B a další

Zdroj: The Journal of clinical investigation [J Clin Invest] 2025 Oct 07; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).

Způsob vydávání: Journal Article

Informace o časopise: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Výrazy ze slovníku MeSH: Receptor, Notch1*/genetics , Receptor, Notch1*/metabolism , Signal Transduction* , Limb Deformities, Congenital*/genetics , Limb Deformities, Congenital*/metabolism , Limb Deformities, Congenital*/pathology , Immunoglobulin J Recombination Signal Sequence-Binding Protein*/genetics , Immunoglobulin J Recombination Signal Sequence-Binding Protein*/metabolism , Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/metabolism , Ectodermal Dysplasia*/pathology , Endothelial Cells*/metabolism , Endothelial Cells*/pathology , Scalp Dermatoses*/genetics , Scalp Dermatoses*/metabolism , Scalp Dermatoses*/pathology , Scalp Dermatoses*/congenital, Animals ; Mice ; Disease Models, Animal ; Humans ; Mutation, Missense

SCR Disease Name: Adams Oliver syndrome

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Autoři: Sezer A Oner SS Saat H a další

Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1240-1251. Date of Electronic Publication: 2025 Jul 04.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/pathology , Frameshift Mutation* , Protein Serine-Threonine Kinases*/genetics , Protein Serine-Threonine Kinases*/metabolism , Craniosynostoses*/genetics , Craniosynostoses*/pathology, Humans ; Male ; Homozygote ; Female ; Animals ; Child, Preschool ; Child ; Infant ; Pedigree ; Bone and Bones/abnormalities

SCR Disease Name: Cranioectodermal Dysplasia

Fixed prosthodontic rehabilitation using a facially driven fully digital workflow of a patient with syndromic amelogenesis imperfecta associated with a rare form of ectodermal dysplasia, tricho-dento-osseous (TDO) syndrome.

Autoři: Sinada N Wang CI

Zdroj: The Journal of prosthetic dentistry [J Prosthet Dent] 2025 Nov; Vol. 134 (5), pp. 1373-1377. Date of Electronic Publication: 2024 Sep 05.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Mosby-Year Book Country of Publication: United States NLM ID: 0376364 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6841 (Electronic) Linking ISSN: 00223913 NLM ISO Abbreviation: J Prosthet Dent Subsets: MEDLINE

Výrazy ze slovníku MeSH: Amelogenesis Imperfecta*/rehabilitation , Amelogenesis Imperfecta*/complications , Ectodermal Dysplasia*/complications , Dental Prosthesis, Implant-Supported*, Humans ; Female ; Adult ; Male

Spectrum of renal involvement among children with ectodermal dysplasia: a case report and narrative review.

Autoři: Jain S Mehta H Dawman L a další

Zdroj: Clinical and experimental dermatology [Clin Exp Dermatol] 2025 Oct 27; Vol. 50 (11), pp. 2109-2117.

Způsob vydávání: Journal Article; Case Reports; Review

Informace o časopise: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/complications , Kidney*/abnormalities, Child, Preschool ; Humans

A digital workflow for tooth-supported complete overdentures with a composite resin injection technique to manage the treatment of a child with ectodermal dysplasia.

Autoři: Liu H Wu J Zhang N a další

Zdroj: The Journal of prosthetic dentistry [J Prosthet Dent] 2025 Oct; Vol. 134 (4), pp. 902-907. Date of Electronic Publication: 2024 Jan 09.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Mosby-Year Book Country of Publication: United States NLM ID: 0376364 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6841 (Electronic) Linking ISSN: 00223913 NLM ISO Abbreviation: J Prosthet Dent Subsets: MEDLINE

Výrazy ze slovníku MeSH: Denture, Overlay* , Composite Resins* , Ectodermal Dysplasia*/rehabilitation , Denture Design*/methods, Humans ; Child ; Workflow ; Printing, Three-Dimensional ; Esthetics, Dental ; Male

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Autoři: Esener Z Yücesoy MA Gezdirici A a další

Zdroj: Clinical genetics [Clin Genet] 2026 Jan; Vol. 109 (1), pp. 122-129. Date of Electronic Publication: 2025 Jul 23.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodysplasins*/genetics , Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/pathology , Wnt Proteins*/genetics , Ectodermal Dysplasia 1, Anhidrotic*/genetics , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Edar Receptor/genetics ; Child, Preschool ; Phenotype ; Child ; Genotype ; Edar-Associated Death Domain Protein/genetics ; Genetic Association Studies ; Adolescent ; Mutation ; Infant ; Hypotrichosis/genetics ; Pedigree ; Adult ; Hypohidrosis/genetics

Mechanical Parameters Based on High-Speed Videoendoscopy of the Vocal Folds in Patients With Ectodermal Dysplasia.

Autoři: Pelka F Ensthaler M Wendler O a další

Zdroj: Journal of voice : official journal of the Voice Foundation [J Voice] 2025 Sep; Vol. 39 (5), pp. 1420.e1-1420.e8. Date of Electronic Publication: 2023 Mar 25.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Mosby Country of Publication: United States NLM ID: 8712262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4588 (Electronic) Linking ISSN: 08921997 NLM ISO Abbreviation: J Voice Subsets: MEDLINE

Výrazy ze slovníku MeSH: Vocal Cords*/physiopathology , Vocal Cords*/diagnostic imaging , Video Recording* , Laryngoscopy*/methods , Phonation* , Ectodermal Dysplasia*/complications , Ectodermal Dysplasia*/physiopathology , Ectodermal Dysplasia*/diagnosis , Voice Quality* , Voice Disorders*/physiopathology , Voice Disorders*/etiology , Voice Disorders*/diagnostic imaging , Voice Disorders*/diagnosis, Humans ; Male ; Adult ; Case-Control Studies ; Young Adult ; Female ; Biomechanical Phenomena ; Predictive Value of Tests ; Adolescent ; Middle Aged ; Time Factors ; Elasticity

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Autoři: Yao L Wan L Lin Y a další

Zdroj: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2025 Aug 08; Vol. 25 (1), pp. 827. Date of Electronic Publication: 2025 Aug 08.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393 (Electronic) Linking ISSN: 14712393 NLM ISO Abbreviation: BMC Pregnancy Childbirth Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodysplasins*/genetics , Ectodermal Dysplasia 1, Anhidrotic*/genetics , Ectodermal Dysplasia 1, Anhidrotic*/diagnostic imaging , Ectodermal Dysplasia 1, Anhidrotic*/diagnosis, Humans ; Female ; Male ; Pregnancy ; Child ; Ultrasonography, Prenatal ; Pedigree ; Exome Sequencing ; China ; Asian People/genetics ; East Asian People

[Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment].

Autoři: Lin L Li P Zhao W

Zdroj: Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology [Hua Xi Kou Qiang Yi Xue Za Zhi] 2025 Aug 01; Vol. 43 (4), pp. 478-485.

Způsob vydávání: English Abstract; Journal Article; Systematic Review

Informace o časopise: Publisher: Sichuan yi xue yuan Country of Publication: China NLM ID: 9422648 Publication Model: Print Cited Medium: Internet ISSN: 2618-0456 (Electronic) Linking ISSN: 10001182 NLM ISO Abbreviation: Hua Xi Kou Qiang Yi Xue Za Zhi Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/complications , Ectodermal Dysplasia*/diagnosis , Prosthodontics*, Child ; Humans ; Anodontia ; Tooth Abnormalities/etiology ; Tooth Abnormalities/therapy

Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management.

Autoři: Yang S Lam JM

Zdroj: Pediatric dermatology [Pediatr Dermatol] 2025 Sep-Oct; Vol. 42 (5), pp. 939-945. Date of Electronic Publication: 2025 Aug 28.

Způsob vydávání: Journal Article; Review

Informace o časopise: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/diagnosis , Ectodermal Dysplasia*/therapy , Ectodermal Dysplasia*/genetics , Limb Deformities, Congenital*/diagnosis , Limb Deformities, Congenital*/therapy , Scalp Dermatoses*/diagnosis , Scalp Dermatoses*/therapy , Scalp Dermatoses*/congenital, Humans ; Diagnosis, Differential

SCR Disease Name: Adams Oliver syndrome

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Autoři: Rogers DJ Hudock RL Dimian AF a další

Zdroj: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2025 Aug; Vol. 69 (8), pp. 682-692. Date of Electronic Publication: 2025 May 19.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/epidemiology , Ectodermal Dysplasia*/physiopathology , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/epidemiology , Heart Defects, Congenital*/physiopathology , Problem Behavior* , Failure to Thrive*/genetics , Failure to Thrive*/physiopathology , Failure to Thrive*/epidemiology , Self-Injurious Behavior*/epidemiology , Self-Injurious Behavior*/genetics , Intellectual Disability*/genetics , Intellectual Disability*/physiopathology, Humans ; Female ; Male ; Adolescent ; Child ; Cross-Sectional Studies ; Young Adult ; Adult ; Facies ; Comorbidity ; MAP Kinase Kinase 1/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Cohort Studies ; MAP Kinase Kinase 2/genetics

SCR Disease Name: Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Autoři: Di Majo BE Leoni C Cartisano E a další

Zdroj: Frontiers in immunology [Front Immunol] 2025 Jul 07; Vol. 16, pp. 1598896. Date of Electronic Publication: 2025 Jul 07 (Print Publication: 2025).

Způsob vydávání: Journal Article; Multicenter Study; Observational Study

Informace o časopise: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Výrazy ze slovníku MeSH: Heart Defects, Congenital*/immunology , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/diagnosis , Ectodermal Dysplasia*/immunology , Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/diagnosis , Failure to Thrive*/immunology , Failure to Thrive*/genetics , Failure to Thrive*/diagnosis , Immunologic Deficiency Syndromes*/immunology , Immunologic Deficiency Syndromes*/genetics , Immunologic Deficiency Syndromes*/diagnosis, Humans ; Male ; Female ; Child, Preschool ; Infant ; Child ; Adult ; Adolescent ; Young Adult ; Retrospective Studies ; Facies ; Proto-Oncogene Proteins B-raf/genetics ; Phenotype ; Mutation

SCR Disease Name: Cardiofaciocutaneous syndrome

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

Autoři: Bess J Brown T Bhala S a další

Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jul; Vol. 27 (7), pp. 101423. Date of Electronic Publication: 2025 Apr 04.

Způsob vydávání: Journal Article; Review

Informace o časopise: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/complications , Ectodermal Dysplasia*/epidemiology , Failure to Thrive*/genetics , Failure to Thrive*/complications , Failure to Thrive*/epidemiology , Failure to Thrive*/pathology , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/complications , Heart Defects, Congenital*/epidemiology , Neoplasms*/genetics , Neoplasms*/epidemiology, Humans ; Facies ; Proto-Oncogene Proteins B-raf/genetics ; Male ; Female ; Incidence ; Proto-Oncogene Proteins p21(ras)/genetics ; MAP Kinase Kinase 1/genetics ; MAP Kinase Kinase 2/genetics ; Child, Preschool ; Child ; Infant ; Risk Factors ; Adult ; Genetic Predisposition to Disease ; Genetic Association Studies ; Adolescent

SCR Disease Name: Cardiofaciocutaneous syndrome

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Autoři: Ballal N Haryadi N

Zdroj: Cardiology in the young [Cardiol Young] 2025 Jul; Vol. 35 (7), pp. 1523-1525. Date of Electronic Publication: 2025 Aug 01.

Způsob vydávání: Journal Article; Case Reports

Informace o časopise: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

Výrazy ze slovníku MeSH: Mitral Valve Prolapse*/diagnosis , Mitral Valve Prolapse*/surgery , Mitral Valve Prolapse*/complications , Mitral Valve Prolapse*/etiology , Ectodermal Dysplasia*/complications , Ectodermal Dysplasia*/diagnosis , Ectodermal Dysplasia*/genetics , Heart Defects, Congenital*/diagnosis , Heart Defects, Congenital*/complications, Humans ; Male ; Echocardiography ; Facies ; Female ; Failure to Thrive

SCR Disease Name: Cardiofaciocutaneous syndrome