Arthrogryposis; Freeman Sheldon syndrome; MYH3 Gene; Whistling face syndrome
Indexed keywords
ARTHROGRYPOSIS;
ARTICLE;
CASE REPORT;
CLINICAL FEATURE;
FACE DYSMORPHIA;
FACE MALFORMATION;
FEMALE;
FETUS;
HUMAN;
HYPOPITUITARISM;
LONG PHILTRUM;
PES EQUINOVARUS;
PRENATAL DIAGNOSIS;
THIRD TRIMESTER PREGNANCY;
F. Burian 1963 The 'whistling face' characteristic in a compound cranio-facio-corporal syndrome Brit J Plast Surg 16 140 143 10.1016/S0007- 1226(63)80095-8 1:STN:280:DyaF383gvV2ltA%3D%3D 14017017
A revised and extended classification of the distal arthrogryposes
DOI 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M
M. Bamshad L. B. Jorde J. C. Carey 1996 A revised and extended classification of the distal arthrogryposes Am J Med Genet 65 277 281 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M 1:STN:280:DyaK2s%2Fot1Kquw%3D%3D 8923935 (Pubitemid 26372948)
Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram
DOI 10.1002/pd.1470
A. Vimercati M. Scioscia M.G. Burattini, et al. 2006 Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram Prenat Diagn 26 679 683 10.1002/pd.1470 16715537 (Pubitemid 44252241)
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss
DOI 10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2- F
G. Zampino G. Conti F. Balducci, et al. 1996 Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss Am J Med Genet 62 293 296 10.1002/(SICI)1096-8628(19960329)62:3<293::AID- AJMG17>3.0.CO;2-F 1:STN:280:DyaK2s%2FjslWnsQ%3D%3D 8882790 (Pubitemid 26091188)
Clinical characteristics and natural history of Freeman-Sheldon syndrome
DOI 10.1542/peds.2005-1219
D.A. Stevenson J.C. Carey J. Palumbos, et al. 2006 Clinical characteristics and natural history of Freeman-Sheldon syndrome Pediatrics 117 754 762 10.1542/peds.2005-1219 16510655 (Pubitemid 46063217)