SKELETAL ABNORMALITIES
8.0 INTRODUCTION Print Section Listen DIAGNOSTIC APPROACH TO SUSPECTED SKELETAL DYSPLASIAS The overall incidence of a lethal skeletal dysplasia is 1/10,000. A detailed fetal anatomic survey is required to satisfactorily…
MISCELLANEOUS ABNORMALITIES
12.1 AMNIOTIC BAND SYNDROME Print Section Listen EPIDEMIOLOGY/GENETICS Definition Amniotic band syndrome (ABS) is a rare spectrum of congenital anomalies caused by entanglement of fetal parts, or disruption of anatomic…
INFECTIONS
9.1 CYTOMEGALIC INCLUSION DISEASE Print Section Listen EPIDEMIOLOGY/GENETICS Definition Cytomegalovirus (CMV) is a large, enveloped DNA herpesvirus. Adult infection is frequently asymptomatic, but fetal infection may cause severe damage to…
NECK AND FACE
7.1 CLEFT LIP AND PALATE Print Section Listen EPIDEMIOLOGY/GENETICS Definition A facial cleft involving the upper lip or palate, usually occurring to the left or right of midline, the cleft…
THE GASTROINTESTINAL SYSTEM
6.1 ANAL ATRESIA Print Section Listen EPIDEMIOLOGY/GENETICS Definition Anal atresia is the congenital absence of an anal opening. Epidemiology Occurrence is 1 5000 births (M3:F2). Embryology Anal atresia results from…
CENTRAL NERVOUS SYSTEM
2.1 AGENESIS OF THE CORPUS CALLOSUM Print Section Listen EPIDEMIOLOGY/GENETICS Definition Complete or partial agenesis of the corpus callosum (ACC) is a failure of the callosal commissural fibers to cross…
THE GENITOURINARY SYSTEM
4.1 AMBIGUOUS GENITALIA Print Section Listen EPIDEMIOLOGY/GENETICS Definition Ambiguous genitalia is a term used to describe the clinical situation when examination of the external genitalia does not allow a clear…
CHROMOSOMES
1.1 TRIPLOIDY Print Section Listen EPIDEMIOLOGY/GENETICS Definition Rare, lethal chromosomal abnormality. An entire extra haploid set of chromosomes results in 69 chromosomes instead of the usual 46. Epidemiology Of human…
