Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. We report the first case of a combination of Mille Koichi,Ito,Kenji,... - 《European Journal of Pediatrics》 被引量: 6发表: 2014年 ...
7.Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.[J].Hiroko Ueda;Tokio Sugiura;Satoru Takeshita;Koichi Ito;Hiroki Kakita;Rika Nagasaki;Kenji Kurosawa;Shinji Saitoh,European Journal of Pediatrics.2014,第11期 ...
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. We report the first case of a combination of Mille Koichi,Ito,Kenji,... - 《European Journal of Pediatrics》 被引量: 6发表: 2014年 From Heterotaxy to VACTERL-H Syndrome - the clinical va...
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. Eur J Pediatr. 2014;173:1541–4.Ueda H, Sugiura T, Takeshita S, et al. Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. Eur J ...
Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic...
[67,101] Fryns syndrome GI malformations, cardiac defects, GU anomalies Diaphragmatic defects, neurocognitive impairment, characteristic facial appearance, No well-characterized unifying causes [102] Holt-Oram syndrome Cardiac malformations, limb malformations Cardiac conduction disease (also Heterozygous ...
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B):13-63] to designate the phenotype of craniosynostosis and radial aplasia. I......
The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistu... ME Cunningham,G Charles,O Boachie-Adje - 《Hss Journal》 被引量: 133发表: 2007年 Inheritance of the VATER/VACTERL association observed an inc...
In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the ...
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, ...