Congenital Anomaly Worksheet
Congenital Anomaly Worksheet
Anomaly Name: AGENESIS of the CORPUS CALLOSUM
Synonym-
Incidence: One in 300 - 15000 births; however, when other anomalies of the CNS are present, it is detected in 50%. Mostly asymptomatic.
Diagnosis:
Complete or partial absence of the Corpus Callosum, a bundle of the WHITE MATTER connecting the Cerebral Hemispheres
Mostly sporadic; INHERITED cases w/ Autonomic - dominant, Autonomic - recessive, and X - linked transmission have been reported.
Embryology: The Corpus Calllosum develop before 11 and 16 gestational weeks. Failure of development may be partial or complete. The dx can be difficult and often missed. Absence of the Corpus Callosum is RARELY dx before 16 weeks of gestation.
Associated Anomalies: …show more content…
DANY - WALKED SYNDROM is the most frequently associated anomaly. Anomaly of the Kidneys, Heart, Lungs, and Diaphragm are frequently seen.
Prognosis:
The isolated condition remains mainly asymptomatic, but SEIZURED may occur. The prognosis in some syndroms - for exp., DANDY - WALKER SYNDROM - is poor when associated w/ absence of Corpus Callosum; otherwise a good prognosis is expected.
Achieving a reliable prognosis and definitely excluding other CNS anomalies are difficult tasks. Diseases w/ Autonomic - dominant inheritance in the parents, such as Tuberous Sclerosis and Basal - Cell Nevus Syndrom, sould be excluded. It is important to search for fetal Infection ( TORCH). Regular sonografic checks DO NOT show any changes in the finding, but the associated VENTRICULOMEGALY may develop later in pregnancy.
OB Management:
KARYOTYPING. Detailed sonographic screening of the fetus and vaginal sonography may help further in Cephalic presentation. Sonographic exclusion of other anomalies and fetal ECHOCARDIOGRAPHY. MRI may be indicated in uncertain
Anomaly Name: AGENESIS of the CORPUS CALLOSUM
Synonym-
Incidence: One in 300 - 15000 births; however, when other anomalies of the CNS are present, it is detected in 50%. Mostly asymptomatic.
Diagnosis:
Complete or partial absence of the Corpus Callosum, a bundle of the WHITE MATTER connecting the Cerebral Hemispheres
Mostly sporadic; INHERITED cases w/ Autonomic - dominant, Autonomic - recessive, and X - linked transmission have been reported.
Embryology: The Corpus Calllosum develop before 11 and 16 gestational weeks. Failure of development may be partial or complete. The dx can be difficult and often missed. Absence of the Corpus Callosum is RARELY dx before 16 weeks of gestation.
Associated Anomalies: …show more content…
DANY - WALKED SYNDROM is the most frequently associated anomaly. Anomaly of the Kidneys, Heart, Lungs, and Diaphragm are frequently seen.
Prognosis:
The isolated condition remains mainly asymptomatic, but SEIZURED may occur. The prognosis in some syndroms - for exp., DANDY - WALKER SYNDROM - is poor when associated w/ absence of Corpus Callosum; otherwise a good prognosis is expected.
Achieving a reliable prognosis and definitely excluding other CNS anomalies are difficult tasks. Diseases w/ Autonomic - dominant inheritance in the parents, such as Tuberous Sclerosis and Basal - Cell Nevus Syndrom, sould be excluded. It is important to search for fetal Infection ( TORCH). Regular sonografic checks DO NOT show any changes in the finding, but the associated VENTRICULOMEGALY may develop later in pregnancy.
OB Management:
KARYOTYPING. Detailed sonographic screening of the fetus and vaginal sonography may help further in Cephalic presentation. Sonographic exclusion of other anomalies and fetal ECHOCARDIOGRAPHY. MRI may be indicated in uncertain