Patients with the third and fourth pharyngeal pouch syndrome, thymic and parathyroid aplasia or hypoplasia, have a very high incidence of aortic arch anomalies and congenital heart disease. These patients present with a unique syndrome characterized by profound hypocalcemia, defective thymic-mediated cellular immune function, and cardiovascular anomalies. The cardiac abnormalities most frequent...

Patients with the third and fourth pharyngeal pouch syndrome, thymic and parathyroid aplasia or hypoplasia, have a very high incidence of aortic arch anomalies and congenital heart disease. These patients present with a unique syndrome characterized by profound hypocalcemia, defective thymic-mediated cellular immune function, and cardiovascular anomalies. The cardiac abnormalities most frequent...

Caudal regression syndrome (CRS) is characterized by a group of heterogeneous anomalies involving the distal spinal cord and vertebral column, genitourinary system, hind gut and limbs. The malformation may range from minor anomalies of spine and spinal cord to the extreme, the sirenomelia. Various authors pointed out an overlap of spectrum of anomalies in CRS and VACTERL (vertebral, anorectal, ...

Survey of 27 cases in the literature and the authors' 3 cases reveals a characteristic syndrome of congenital absence of the spleen with certain cardiovascular and gastrointestinal abnormalities. The hematologic and other findings permit a presumptive antemortem diagnosis. More accurate prognosis is made possible and valuable information is afforded the cardiac surgeon, since the cardiac anomal...

Survey of 27 cases in the literature and the authors' 3 cases reveals a characteristic syndrome of congenital absence of the spleen with certain cardiovascular and gastrointestinal abnormalities. The hematologic and other findings permit a presumptive antemortem diagnosis. More accurate prognosis is made possible and valuable information is afforded the cardiac surgeon, since the cardiac anomal...

BACKGROUND In Brazil, since 2001, the congenital abnormalities have represented the second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES To establish the prevalence and the characteristics of the congenital cardiac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, D...

maternal hyperglycemia during early gestation is associated with an increased incidence of congenital anomalies. a case of mater­nal diabetes syndrome is presented here with a rare constellation of congenital anomalies, i.e., bifurcated distal pha­lanx of the thumb, patent ductus arteriosus and cleft lip.

developing supernumerary limbs is a rare congenital condition that only a few cases have been documented. depending on the cause and developmental conditions, they may be single, multiple or complicated, and occur as a syndrome or associated with other anomalies. polymelia is defined as the presence of extra limb(s) which have been reported in human, mouse, chicken, calf and lamb. it seems that...

D EFECTS in the atrial septum are of relatively great clinical importance. They are the most common of all congenital cardiac malformations, constituting as a single lesion 7 to 25 per cent' and as a combined lesion perhaps as high as 85 per cent2 of all congenital cardiac anomalies. Moreover, they are not infrequently accompanied by disturbances in circulation which cause symptoms sufficiently...

D EFECTS in the atrial septum are of relatively great clinical importance. They are the most common of all congenital cardiac malformations, constituting as a single lesion 7 to 25 per cent' and as a combined lesion perhaps as high as 85 per cent2 of all congenital cardiac anomalies. Moreover, they are not infrequently accompanied by disturbances in circulation which cause symptoms sufficiently...