7 results
07/Nov/2023
DOI: 10.31744/einstein_journal/2023RC0544
ABSTRACT Tailgut cysts are rare congenital lesions that are remnants of the embryonic hindgut. This abnormality presents with non-specific symptoms or no symptoms; therefore, misdiagnosis is common. Here, we present four cases of tailgut cysts that were successfully removed using a robotic surgical approach. A 42-year-old woman with tenesmus, pain in the right gluteal region, and discomfort in the rectal region during evacuation was referred to our medical center. Another patient was a 28-year-old woman who presented with the same […]
Keywords: Congenital abnormalities; Cysts; Margins of excision; Rectal neoplasms; Robotic surgical procedures
19/Sep/2022
DOI: 10.31744/einstein_journal/2022RC0072
ABSTRACT To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, […]
Keywords: Biliary atresia; Congenital abnormalities; Hernia, umbilical; Infant, Newborn; Jaundice
13/May/2019
DOI: 10.31744/einstein_journal/2019RC4514
ABSTRACT The left ventricular noncompaction is a congenital cardiomyopathy characterized by the presence of abnormal trabeculations in the left ventricle. The present study describes the case of a 14-year-old female Para athlete, who plays goalball. She was asymptomatic, with history of congenital nystagmus and mild visual impairment, who presented nonspecific electrocardiographic abnormalities during pre-competition screening. Cardiac magnetic resonance imaging showed left ventricular non-compaction (non-compacted to compacted layer ratio equal to 2.5) and mild biventricular systolic dysfunction. Initially, the patient was […]
Keywords: Cardiomyopathies; Congenital abnormalities; Exercise; Isolated noncompaction of the ventricular myocardium
01/Apr/2017
DOI: 10.1590/S1679-45082017RC3927
ABSTRACT Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of […]
Keywords: Case reports; Congenital abnormalities; Cryptorchidism; Orchiopexy; Penis; Scrotum
01/Jul/2016
DOI: 10.1590/S1679-45082016AO3721
ABSTRACT Objective: To identify the profile of women seen in a Fetal Medicine unit, diagnosed with fetal abnormality incompatible with neonatal survival in their current pregnancy, and to check the association of gestational age upon diagnosis with the option of pregnancy termination. Methods: This is a retrospective cohort study carried out in the Fetal Medicine Outpatients Clinic of a university hospital, in the city of São Paulo (SP), Brazil, using medical records of pregnant women with fetus presenting abnormalities incompatible […]
Keywords: Abortion; Congenital abnormalities; Decision Making; Fetal viability; legal
01/Oct/2010
DOI: 10.1590/S1679-45082010AO1880
ABSTRACT Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children […]
Keywords: Alcohol-related disorders; Alcoholism; Congenital abnormalities; Fetal alcohol syndrome; Infant, Newborn
01/Apr/2010
DOI: 10.1590/S1679-45082010AO1504
ABSTRACT Objectives: To verify the incidence of skin diseases in newborns of pregnant women at risk of a public hospital in the city of Santos, Brazil (Hospital Guilherme Alvaro), determining the potential relation between these dermatoses and diseases presented by the mothers. Methods: A total of 1,000 neonates were examined in the first 36 hours of life. The examination was repeated daily in each child up to hospital discharge. The paternal and newborn variables were submitted to analysis to detect […]
Keywords: Congenital abnormalities; Infant, Newborn; Skin diseases/epidemiology; Statistical analysis