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freeman-sheldon syndrome (75) 75
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female (36) 36
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syndrome (26) 26
whistling face syndrome (24) 24
genetics & heredity (20) 20
index medicus (20) 20
arthrogryposis - genetics (15) 15
child (15) 15
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freeman–sheldon syndrome (9) 9
genetic aspects (9) 9
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microstomia (9) 9
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arthrogryposis - diagnosis (8) 8
craniocarpotarsal dystrophy (8) 8
mutations (8) 8
whistling face (8) 8
abnormalities, multiple (7) 7
abnormalities, multiple - genetics (7) 7
arthrogryposis - classification (7) 7
cytoskeletal proteins - genetics (7) 7
distal arthrogryposis type 2a (6) 6
genes, dominant (6) 6
myopathy (6) 6
patient (6) 6
pregnancy (6) 6
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arthrogryposis - pathology (5) 5
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contractures (5) 5
cranio-carpo-tarsal dysplasia (5) 5
craniocarpotarsal dysplasia (5) 5
craniofacial dysostosis - diagnosis (5) 5
craniofacial dysostosis - genetics (5) 5
dentistry, oral surgery & medicine (5) 5
diagnosis (5) 5
facies (5) 5
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genetics (5) 5
medicine & public health (5) 5
myosin (5) 5
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skeletal-muscle (5) 5
abnormalities, multiple - diagnosis (4) 4
abnormalities, multiple - pathology (4) 4
arthrogryposis - physiopathology (4) 4
camptodactyly (4) 4
cause distal arthrogryposis (4) 4
craniofacial dysostosis - complications (4) 4
craniofacial dysostosis - surgery (4) 4
distal arthrogryposes (4) 4
fingers - abnormalities (4) 4
hall-syndrome (4) 4
malignant hyperthermia (4) 4
prenatal diagnosis (4) 4
scoliosis (4) 4
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abnormalities, multiple - surgery (3) 3
adolescent (3) 3
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akinesia deformation sequence (3) 3
amino acid sequence (3) 3
analysis (3) 3
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arthrogryposis - therapy (3) 3
blepharophimosis (3) 3
carpo-tarsal dysplasia (3) 3
case studies (3) 3
chromosome mapping (3) 3
classification (3) 3
clubfoot (3) 3
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congenital contractures (3) 3
congenital diseases (3) 3
contracture (3) 3
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The Journal of craniofacial surgery, ISSN 1049-2275, 11/2018, Volume 29, Issue 8, pp. 2176 - 2178
While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been... 
SURGERY | distal arthrogryposis | MUTATIONS | distal arthrogryposis type 2A | Craniocarpotarsal dystrophy | Sheldon-Hall syndrome | whistling face syndrome | Freeman-Sheldon syndrome | Terminology as Topic | Eponyms | Female | Craniofacial Dysostosis | Humans | Care and treatment | Diagnosis
Journal Article
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Bamshad, Michael J and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Chen, Christina and Chin, Jennifer and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Siegel, Deborah L and Staples, Jeffrey C and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Univ Washington and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Journal Article
Clinical and Experimental Obstetrics and Gynecology, ISSN 0390-6663, 2018, Volume 45, Issue 4, pp. 597 - 598
A case of a labioplasty in an 18-year-old Freeman-Sheldon patient with labia minora hypertrophy is described. 
Labia minora hypertrophy | Freeman-Sheldon syndrome | Labioplasty | OBSTETRICS & GYNECOLOGY
Journal Article
Developmental Biology, ISSN 0012-1606, 05/2019, Volume 449, Issue 2, pp. 90 - 98
Missense mutations in the gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes,... 
Myosin heavy chain | Sarcomere | Drosophila | Skeletal muscle | Contracture | Freeman-Sheldon syndrome | PROTEIN | CAUSE DISTAL ARTHROGRYPOSIS | DEVELOPMENTAL BIOLOGY | Medical research | Myosin | Muscles | Medicine, Experimental | Genetic aspects | Muscle proteins
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 841 - 849
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 9/2019, Volume 56, Issue 8, pp. 1107 - 1114
In the context of a case presentation of a 16-year-old girl treated for retrognathia associated with Freeman-Burian syndrome (FBS), importance of early... 
SURGERY | bridged sella turcica | orthodontic appliance | CARPO-TARSAL DYSPLASIA | PHENOTYPE | CRANIOCARPOTARSAL DYSPLASIA | whistling face syndrome | Freeman-Sheldon syndrome | craniocarpotarsal dystrophy | SHELDON-SYNDROME | retrognathia | DENTISTRY, ORAL SURGERY & MEDICINE | MUTATIONS
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1746 - 1751
Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM # 272460) characterized by prenatal vertebral fusion, scoliosis, short stature... 
DISTAL ARTHROGRYPOSES | MULTIPLE PTERYGIUM SYNDROME | CONTRACTURES | FORM | BIOCHEMISTRY & MOLECULAR BIOLOGY | VERTEBRAL SEGMENTATION | DEFECT | GENETICS & HEREDITY | CLASSIFICATION | MUTATIONS | HALL-SYNDROME | FREEMAN-SHELDON-SYNDROME
Journal Article
European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry, ISSN 1591-996X, 12/2015, Volume 16, Issue 4, pp. 311 - 314
Background Freeman-Sheldon syndrome is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly with ulnar... 
Whistling face syndrome | PEDIATRICS | Dental treatment | ANESTHETIC MANAGEMENT | DENTISTRY, ORAL SURGERY & MEDICINE | Freeman-Sheldon syndrome | Child, Preschool | Male | Craniofacial Dysostosis - pathology | Stomatognathic Diseases - etiology | Humans | Craniofacial Dysostosis - complications
Journal Article
Reference
Case Reports in Genetics, ISSN 2090-6544, 2017, Volume 2017, pp. 9327169 - 5
We report a case of a male baby who has characteristic signs of Freeman-Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal... 
Case studies | Care and treatment | Diagnosis | Freeman-Sheldon syndrome | Case Report
Journal Article
Indian Journal of Anaesthesia, ISSN 0019-5049, 11/2013, Volume 57, Issue 6, pp. 632 - 633
Journal Article
Journal of Indian Society of Pedodontics and Preventive Dentistry, ISSN 0970-4388, 07/2013, Volume 31, Issue 3, pp. 184 - 187
  Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities:... 
Distal arthrogryposis | whistling face syndrome | Freeman-Sheldon syndrome | Genetic disorders | Hands | Pediatrics | Parents & parenting | Mouth | Families & family life | Mutation | Fluorides | Family medical history | Dental care | Patients | Foot diseases
Journal Article