Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual Association [PDF]
, 2013 A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol.
Borges, C +3 more
core +1 more source
Preferential associated anomalies in 818 cases of microtia in South america [PDF]
, 2013 The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique +5 more
core +3 more sources
Omphalocele with intestinal prolapse through a patent omphalomesenteric duct: A case report
Journal of Pediatric Surgery Case Reports, 2023 Introduction: The combination of a patent omphalomesenteric duct in the setting of an omphalocele is rare and has an unusual physical appearance on presentation.
SaraPettey Sandifer +3 more
doaj
Cantrell Syndrome. Case report of an adult [PDF]
, 2000 Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and ...
Falcão, João Luiz Alencar Araripe +4 more
core +4 more sources
Cloacal exstrophy associated with gastroschisis: Case report of a rare association with favorable outcome [PDF]
, 2015 Abdominal wall defects are congenital malformations representing a challenge for pediatric surgeons. This paper presents a rare case of difficult surgical decision and clinical management, leading to a favorable outcome brought about by the ...
Alberti, Luiz Ronaldo +7 more
core +1 more source
15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies
Case Reports in Pediatrics, 2018 Background. Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist.
Hui-Fang Zhou +3 more
doaj +1 more source
Glucocorticoids for treating paediatric pulmonary hypertension: A novel use for a common medication [PDF]
, 2017 Laboratory investigations have shown the role of inflammation in the pathogenesis of pulmonary hypertension and improvement after anti-inflammatory drugs.
Aggarwal, Manish, Grady, Ronald M
core +2 more sources
Prenatal Sonographic Features of Miller-Dieker Syndrome [PDF]
, 2010 Miller-Dieker syndrome (MDS) is a contiguous gene deletion disorder involving genes on chromosome 17p13.3. Clinical manifestations include central nervous system (CNS) anomalies (mainly Type I lissencephaly), facial dysmorphism, growth restriction ...
Chen, Chih-Ping, Chien, Shu-Chin
core +1 more source
Omphalocele and gastroshisis: A 14-year study [PDF]
Scripta Medica, 2015 Introduction: Omphalocele and gastroschisis are developmental defects of the anterior abdominal wall, which have only recently been categorized as separate entities. In both cases, it is a herniation of abdominal organs through appropriate defects of the
Raković Mirko +3 more
doaj
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source