Results 51 to 60 of about 12,598 (246)

Congenital Membrane Causing Duodenal Obstruction and Malpositioning of the Descending Colon

Pediatrics and Neonatology, 2013
A congenital membrane without intestinal malrotation is a rare cause of duodenal obstruction. Here we present an 11-year-old girl who had suffered from intermittent abdominal cramping pain and vomiting for more than 5 years.
Chee-Chee Koh, Sheng-Hong Tseng, Chia-Chi Weng, Yun Chen   +3 more
doaj   +1 more source

Live transplantation in children with biliary atresia and vascular anomalies [PDF]

, 1974
Eight of 29 infants and children undergoing orthotopic liver transplantation for extrahepatic biliary atresia had associated major vascular anomalies.
Lilly, JR, Starzl, TE
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Case report of duodenal obstruction from multiple webs

Journal of Pediatric Surgery Case Reports, 2016
A duodenal obstruction with three separate obstructing duodenal webs is a very rare congenital anomaly, with only one other case reported in the literature. We present a case in a 3-week-old newborn that underwent successful surgical repair.
Kelley Ward, Khalil A. Harbie, Saleem Islam   +2 more
doaj   +1 more source

Obstrução duodenal congênita. [PDF]

, 1999
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Colombeli, Eliete Magda
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Decline in Survival After Liver Transplantation [PDF]

, 1980
Twenty-three recent cases of orthotopic liver transplantation were individually reviewed in an effort to determine why survival had declined from the 50% one-year survival rate of an immediately precedent series.
Halgrimson, CG, Hartley, RB, Koep, L, Porter, KA, Schroter, GPJ, Starzl, TE, Weil, R   +6 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Obstructive Sleep Apnea in Young Infants with Down Syndrome Evaluated in a Down Syndrome Specialty Clinic [PDF]

, 2015
Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA). Research utilizing stringent age criteria among samples of infants with DS and OSA is limited. This study examines
Bull, Marilyn J., Davis, Charlene, Duvall, Nichole, Goffinski, Alida, Jenkinson, Sandra B., Roper, Randall J., Shepherd, Nicole, Stanley, Maria A.   +7 more
core   +1 more source