Results 191 to 200 of about 603,133 (214)

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Cytogenetic and Genome Research, 2016
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype.
L. Ronzoni, A. Novelli, G. Brisighelli, A. Peron, F. Triulzi, Vera Bianchi, E. Leva, M. Bedeschi   +7 more
semanticscholar   +1 more source

Screening for VACTERL anomalies in children with anorectal malformations: Outcomes of a standardized approach.

Journal of Pediatric Surgery, 2023
H. Evans-Barns, Liesel Porrett, Penelope L. Hartmann, Jessica Taranto, Suzie Jackson-Fleurus, P. Dinning, J. Hutson, W. Teague, S. King   +8 more
semanticscholar   +1 more source

Two cases of 22q11.2 deletion syndrome with anorectal anomalies and growth retardation

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2011
Clinical features associated with the deletion of 22q11.2 are highly variable. Most are diagnosed by cardinal congenital heart disease or hypoparathyroidism.
K. Nagasaki, M. Itoh, Okuyama Naoki, M. Kubota, T. Kikuchi, M. Uchiyama   +5 more
semanticscholar   +1 more source

Congenital anorectal anomalies: MR imaging.

Radiology, 1988
Twenty-one patients with anorectal anomalies were evaluated with magnetic resonance (MR) imaging. In seven preoperative patients, MR imaging demonstrated the level of atresia correctly by showing the rectal pouch and sphincter muscles. The exact location
Y. Sato, K. Pringle, R. Bergman, W. Yuh, W. Smith, R. Soper, E. Franken   +6 more
semanticscholar   +1 more source

Familial anorectal anomalies.

Pediatrics, 1961
A family is reported in which all four children, equally divided between the sexes, manifested anorectal anomalies ranging from an anorectal stenosis to a type III imperforate anus. There is no knowledge of similar anomalies in other relatives.
D. W. Vangelder, H. Kloepfer
semanticscholar   +1 more source

Anorectal anomalies associated with or as part of other anomalies.

American journal of medical genetics, 2002
Anorectal anomalies occurring with other anomalies or as part of syndromes were analyzed to determine how their epidemiological characteristics differed from those of isolated anal anomalies. Almost 15% of cases were chromosomal, monogenic or teratogenic
A. Cuschieri
semanticscholar   +1 more source

Colostomy for anorectal anomalies: high incidence of complications.

Journal of Pediatric Surgery, 2001
PURPOSE The aim of this study was to characterize the type and incidence of complications related to colostomy formation in newborn infants with anorectal anomalies.
N. Patwardhan, E. Kiely, D. Drake, L. Spitz, A. Pierro   +4 more
semanticscholar   +1 more source

Anorectal anomalies in the female: Highlights on surgical management.

Journal of Pediatric Surgery, 2020
A. AbouZeid, M. Bayoumi, Mona M Abo El-Ela   +2 more
semanticscholar   +1 more source

Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations.

Journal of Pediatric Surgery, 2021
G. Esposito, G. Totonelli, F. Morini, G. Contini, P. Palma, G. Mosiello, D. Longo, P. Schingo, C. Marras, P. Bagolan, B. Iacobelli   +10 more
semanticscholar   +1 more source

Re: Gynecological Anomalies in Patients with Anorectal Malformations.

Journal of Urology, 2020
D. Canning
semanticscholar   +1 more source