Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 16:104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and f...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
Eur J Med Genet. 2022 Apr 18;65(6):104512. doi: 10.1016/j.ejmg.2022.104512. Online ahead of print.ABSTRACTOral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands...
Source: European Journal of Medical Genetics - April 19, 2022 Category: Genetics & Stem Cells Authors: Mamiko Yamada Hisato Suzuki Hiroshi Futagawa Toshiki Takenouchi Fuyuki Miya Hiroshi Yoshihashi Kenjiro Kosaki Source Type: research

Contemporary outcomes after pulmonary artery banding in complete atrioventricular septal defect
CONCLUSIONS: PAB is a viable option for patients with early presenting complete AVSD. Tighter PAB might be beneficial for early postoperative outcomes and preventing progression of AVVR in complete AVSD.PMID:35405104 | DOI:10.1016/j.athoracsur.2022.03.055 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - April 11, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Mi Jin Kim Seulgi Cha Jae Suk Baek Jeong Jin Yu Dong-Hee Kim Eun Seok Choi Bo Sang Kwon Tae-Jin Yun Chun Soo Park Source Type: research

Contemporary outcomes after pulmonary artery banding in complete atrioventricular septal defect
CONCLUSIONS: PAB is a viable option for patients with early presenting complete AVSD. Tighter PAB might be beneficial for early postoperative outcomes and preventing progression of AVVR in complete AVSD.PMID:35405104 | DOI:10.1016/j.athoracsur.2022.03.055 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - April 11, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Mi Jin Kim Seulgi Cha Jae Suk Baek Jeong Jin Yu Dong-Hee Kim Eun Seok Choi Bo Sang Kwon Tae-Jin Yun Chun Soo Park Source Type: research

Contemporary surgical management of complete atrioventricular septal defect with tetralogy of Fallot in Japan
ConclusionsStaged approach for complete atrioventricular septal defect with tetralogy of Fallot was the preferred option. The outcomes of this complex disease were favorable for patients in centers with low cases of complete atrioventricular septal defect with tetralogy of Fallot. (Source: General Thoracic and Cardiovascular Surgery)
Source: General Thoracic and Cardiovascular Surgery - March 25, 2022 Category: Cardiovascular & Thoracic Surgery Source Type: research

Surgical Repair of Secondary Subaortic Stenosis in Congenital Heart Disease Without Initial Subaortic Obstruction
CONCLUSIONS: Secondary subaortic stenosis is an uncommon heart disease. The reason is related to several causes, including missed diagnosis, unnoticed abnormalities of LVOT, and further changes of geometric morphology by intracardiac surgery. The results of surgery in these patients are satisfied. However, the recurrence of stenosis is still frequent.PMID:35238308 | DOI:10.1532/hsf.4299 (Source: The Heart Surgery Forum)
Source: The Heart Surgery Forum - March 3, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Yuefeng Cao Xiangming Fan Source Type: research

Surgical Repair of Secondary Subaortic Stenosis in Congenital Heart Disease Without Initial Subaortic Obstruction
CONCLUSIONS: Secondary subaortic stenosis is an uncommon heart disease. The reason is related to several causes, including missed diagnosis, unnoticed abnormalities of LVOT, and further changes of geometric morphology by intracardiac surgery. The results of surgery in these patients are satisfied. However, the recurrence of stenosis is still frequent.PMID:35238308 | DOI:10.1532/hsf.4299 (Source: The Heart Surgery Forum)
Source: The Heart Surgery Forum - March 3, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Yuefeng Cao Xiangming Fan Source Type: research

Surgical Repair of Secondary Subaortic Stenosis in Congenital Heart Disease Without Initial Subaortic Obstruction
CONCLUSIONS: Secondary subaortic stenosis is an uncommon heart disease. The reason is related to several causes, including missed diagnosis, unnoticed abnormalities of LVOT, and further changes of geometric morphology by intracardiac surgery. The results of surgery in these patients are satisfied. However, the recurrence of stenosis is still frequent.PMID:35238308 | DOI:10.1532/hsf.4299 (Source: The Heart Surgery Forum)
Source: The Heart Surgery Forum - March 3, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Yuefeng Cao Xiangming Fan Source Type: research

Surgical Repair of Secondary Subaortic Stenosis in Congenital Heart Disease Without Initial Subaortic Obstruction
CONCLUSIONS: Secondary subaortic stenosis is an uncommon heart disease. The reason is related to several causes, including missed diagnosis, unnoticed abnormalities of LVOT, and further changes of geometric morphology by intracardiac surgery. The results of surgery in these patients are satisfied. However, the recurrence of stenosis is still frequent.PMID:35238308 | DOI:10.1532/hsf.4299 (Source: The Heart Surgery Forum)
Source: The Heart Surgery Forum - March 3, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Yuefeng Cao Xiangming Fan Source Type: research

Surgical Repair of Secondary Subaortic Stenosis in Congenital Heart Disease Without Initial Subaortic Obstruction
CONCLUSIONS: Secondary subaortic stenosis is an uncommon heart disease. The reason is related to several causes, including missed diagnosis, unnoticed abnormalities of LVOT, and further changes of geometric morphology by intracardiac surgery. The results of surgery in these patients are satisfied. However, the recurrence of stenosis is still frequent.PMID:35238308 | DOI:10.1532/hsf.4299 (Source: The Heart Surgery Forum)
Source: The Heart Surgery Forum - March 3, 2022 Category: Cardiovascular & Thoracic Surgery Authors: Yuefeng Cao Xiangming Fan Source Type: research