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1. Full Text Radial Ray Malformation
by Gandhi, Manisha and Rac, Martha W.F and McKinney, Jennifer and Society for Maternal-Fetal Medicine (SMFM) and Soc Maternal-Fetal Med SMFM
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
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2. Full Text VACTERL/VATER association
by Solomon, Benjamin D
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome | Index Medicus
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3. Full Text Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet
by Al-Qattan, M. M
The Journal of hand surgery, European volume, ISSN 1753-1934, 11/2014, Volume 39, Issue 9, pp. 958 - 965
prevalence | congenital hand | Dorsal dimelia | foot | Life Sciences & Biomedicine | Orthopedics | Surgery | Science & Technology | Heart Defects, Congenital - classification | Prospective Studies | Hand Deformities - classification | Humans | Child, Preschool | Hand Deformities, Congenital - classification | Infant | Male | Hand Deformities, Congenital - diagnosis | Spine - abnormalities | Ectromelia - diagnosis | Limb Deformities, Congenital - classification | Female | Child | Foot Deformities, Congenital - epidemiology | Hand Deformities - diagnosis | Trachea - abnormalities | Hand Deformities, Congenital - epidemiology | Cross-Sectional Studies | Foot Deformities, Congenital - diagnosis | Ectromelia - classification | Esophagus - abnormalities | Syndrome | Foot Deformities, Congenital - classification | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Phenotype | Hand Deformities - epidemiology | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Ectromelia - epidemiology | Thumb - abnormalities | Index Medicus
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4. Full Text Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
by Kariminejad, Ariana and Ajeawung, Norbert Fonya and Bozorgmehr, Bita and DIonne-Laporte, Alexandre and Molidperee, Sirinart and Najafi, Kimia and Gibbs, Richard A and Lee, Brendan H and Hennekam, Raoul C and Campeau, Philippe M
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
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5. Full Text Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology
by Mano, Hiroshi and Fujiwara, Sayaka and Takamura, Kazuyuki and Kitoh, Hiroshi and Takayama, Shinichiro and Ogata, Tsutomu and Hashimoto, Shuji and Haga, Nobuhiko
BMC musculoskeletal disorders, ISSN 1471-2474, 07/2018, Volume 19, Issue 1, pp. 262 - 262
Cross-sectional study | Nationwide survey | Birth prevalence | Congenital limb deficiency | Epidemiology | Life Sciences & Biomedicine | Orthopedics | Rheumatology | Science & Technology | Upper Extremity Deformities, Congenital - surgery | Japan - epidemiology | Age Distribution | Prevalence | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Lower Extremity Deformities, Congenital - diagnosis | Male | Lower Extremity Deformities, Congenital - epidemiology | Upper Extremity Deformities, Congenital - diagnosis | Health Surveys | Time Factors | Sex Distribution | Female | Lower Extremity Deformities, Congenital - surgery | Upper Extremity Deformities, Congenital - epidemiology | Child | Infant, Newborn | Genetic aspects | Research | Analysis | Abnormalities | Extremities (Anatomy) | Prostheses | Limbs | Congenital diseases | Pancreatitis | Births | Patients | Defects | Confidence intervals | Sex ratio | Hospitals | Surgery | Cooperation | Response rates | Fingers & toes | Index Medicus
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6. Angular Limb Deformities: Growth Retardation
by McCarrel, Taralyn M
The Veterinary clinics of North America. Equine practice, ISSN 0749-0739, 08/2017, Volume 33, Issue 2, pp. 353 - 366
Transphyseal bridge | Angular limb deformity | Transphyseal screw | Foal | Life Sciences & Biomedicine | Veterinary Sciences | Science & Technology | Animals, Newborn | Horse Diseases - diagnosis | Horse Diseases - surgery | Sutures - veterinary | Epiphyses - growth & development | Epiphyses - surgery | Bone Wires - veterinary | Equidae | Bone Screws - veterinary | Limb Deformities, Congenital - diagnosis | Tarsus, Animal - abnormalities | Animals | Horses | Limb Deformities, Congenital - veterinary | Limb Deformities, Congenital - complications | Limb Deformities, Congenital - surgery | Tarsus, Animal - surgery
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7. Full Text Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review
by Arkoumanis, Panagiotis-Theofanis and Gklavas, Antonios and Karageorgou, Margarita and Gourzi, Polyxeni and Mantzaris, Gerassimos and Pantou, Malena and Papaconstantinou, Ioannis
Medical archives (Sarajevo, Bosnia and Herzegovina), ISSN 0350-199X, 10/2018, Volume 72, Issue 4, pp. 292 - 294
Heart Septal Defects, Atrial - surgery | Upper Extremity Deformities, Congenital - surgery | Rare Diseases - surgery | Heart Defects, Congenital - surgery | Humans | Rare Diseases - diagnosis | Lower Extremity Deformities, Congenital - diagnosis | Treatment Outcome | Lower Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Abnormalities, Multiple - surgery | Crohn Disease - therapy | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Heart Septal Defects, Atrial - complications | Abnormalities, Multiple - diagnosis | Crohn Disease - diagnosis | Adult | Female | Heart Defects, Congenital - diagnosis | Lower Extremity Deformities, Congenital - surgery | Crohn Disease - etiology | Arms | Birth defects | Congenital diseases | Chromosomes | Crohns disease | Cardiac-limb syndrome | Case Report | Holt-Oram syndrome | Crohn’s disease
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8. Angular Limb Deformities Growth Augmentation
by Garcia-Lopez, Jose M
The Veterinary clinics of North America. Equine practice, ISSN 0749-0739, 08/2017, Volume 33, Issue 2, p. 343
Life Sciences & Biomedicine | Veterinary Sciences | Science & Technology | Animals, Newborn | Hoof and Claw - surgery | Horse Diseases - diagnosis | Tarsal Bones - abnormalities | Risk Factors | Joint Instability - veterinary | Limb Deformities, Congenital - therapy | Horse Diseases - etiology | Carpus, Animal - abnormalities | Horse Diseases - therapy | Limb Deformities, Congenital - diagnosis | Tarsus, Animal - abnormalities | Animals | Tarsal Bones - pathology | Horses | Limb Deformities, Congenital - veterinary | Limb Deformities, Congenital - complications | Hoof and Claw - abnormalities | Joint Instability - complications | Osteogenesis | Physical Conditioning, Animal
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9. Full Text Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
by Ganetzky, Rebecca and Izumi, Kosuke and Edmondson, Andrew and Muraresku, Colleen Clarke and Zackai, Elaine and Deardorff, Matthew and Ganesh, Jaya
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2411 - 2417
arthrogryposis | dolichyl‐phosphate alpha‐N‐acetylglucosaminyltransferase | Congenital disorder of glycosylation type IJ | Arthrogryposis | Dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Cleft Palate - diagnosis | Limb Deformities, Congenital - genetics | Humans | Molecular Sequence Data | N-Acetylglucosaminyltransferases - genetics | Hydrocephalus - pathology | Cleft Palate - genetics | Mutation, Missense | Contracture - genetics | Congenital Disorders of Glycosylation - pathology | Arthrogryposis - diagnosis | Contracture - complications | Female | Arthrogryposis - pathology | Hydrocephalus - genetics | Abnormalities, Multiple - genetics | Congenital Disorders of Glycosylation - genetics | Infant, Newborn | Amino Acid Sequence | Diagnosis, Differential | Gene Expression | Hydrocephalus - diagnosis | Contracture - pathology | Arthrogryposis - complications | Hydrocephalus - complications | Arthrogryposis - genetics | Congenital Disorders of Glycosylation - complications | Limb Deformities, Congenital - diagnosis | Sequence Alignment | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Cleft Palate - pathology | Cleft Palate - complications | Limb Deformities, Congenital - complications | Congenital Disorders of Glycosylation - diagnosis | Limb Deformities, Congenital - pathology | Genetic disorders | Cataracts | Cerebellum | Transferrin | Congenital diseases | Akinesia | Fetuses | Glycosylation | Pregnancy | Myelination | Missense mutation | Magnetic resonance imaging | Etiology | Differential diagnosis | Isoelectric focusing | Index Medicus
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10. Full Text Lower Limb Deformities
: Deformity Correction and Function Reconstruction
by Qin, Sihe and Zang, Jiancheng and Jiao, Shaofeng and Pan, Qi
2020, ISBN 9811396035, 772
eBook
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11. Full Text Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery
by Oberg, Kerby C
1/2019, Volume 44, Issue 1, 11
limb development | Congenital upper limb anomalies | genetics | classification | mechanisms | Life Sciences & Biomedicine | Orthopedics | Surgery | Science & Technology | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Humans | Upper Extremity Deformities, Congenital - classification | Mutation | Upper Extremity Deformities, Congenital - genetics | Communication | Index Medicus
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12. Full Text VACTERL Association with Situs Inversus Totalis: A Unique Combination
by Slagle, Cara L and Schulz, Elizabeth V and Annibale, David J
Neonatal network, ISSN 0730-0832, 03/2019, Volume 38, Issue 2, pp. 98 - 106
Pediatrics and Neonatal | Critical Care, Acute Care, and Emergency | Nursing | Advanced Practice | Women's Health, Obstetrics, and Midwifery | Anal atresia | Limb malformations | Vertebral malformations | Esophageal atresia | Situs inversus | Renal malformations | Cardiac defects | Congenital malformations | Tracheoesophageal fistula | Aftercare - methods | Physical Examination - methods | Humans | Vestibulocochlear Nerve Diseases - congenital | Limb Deformities, Congenital - therapy | Limb Deformities, Congenital - physiopathology | Patient Care Management - methods | Spine - abnormalities | Esophagus - physiopathology | Radiography, Abdominal - methods | Situs Inversus - diagnosis | Anal Canal - physiopathology | Female | Situs Inversus - therapy | Vestibulocochlear Nerve Diseases - diagnosis | Trachea - physiopathology | Infant, Newborn | Kidney - physiopathology | Trachea - abnormalities | Diagnosis, Differential | Respiratory Distress Syndrome, Newborn - diagnosis | Situs Inversus - complications | Spine - physiopathology | Neonatal Screening - methods | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Situs Inversus - physiopathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Radiography, Thoracic - methods | Heart Defects, Congenital - physiopathology | Heart Defects, Congenital - therapy
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13. Full Text Knee Deformities in Children With Down Syndrome: A Focus on Knee Malalignment
by Duque Orozco, Maria del Pilar and Abousamra, Oussama and Chen, Brian Po-Jung and Rogers, Kenneth J and Sees, Julieanne P and Miller, Freeman
Journal of pediatric orthopaedics, ISSN 0271-6798, 05/2018, Volume 38, Issue 5, pp. 266 - 273
patellofemoral instability | knee joint | Down syndrome | Pediatrics | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Patellofemoral Joint - diagnostic imaging | Humans | Orthopedic Procedures - methods | Male | Limb Deformities, Congenital - diagnosis | Outcome and Process Assessment (Health Care) | Growth Plate | Radiography - methods | Adolescent | Down Syndrome - complications | Patellofemoral Joint - abnormalities | Female | Limb Deformities, Congenital - complications | Retrospective Studies | Orthopedic Procedures - statistics & numerical data | Child | Knee | Complications and side effects | Care and treatment | Medical examination | Abnormalities | Physiological aspects | Pediatric orthopedics | Diagnosis | Hypermobility | Pediatric research | Joints | Index Medicus
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