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…
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…
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…
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…
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…
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…
ABDOMEN Print Section Listen Note: Items in bold represent most common diagnosis. ABDOMINAL CYST OR FLUID COLLECTION Dilated bladder Dilated bowel Hydroureter Ovarian cyst (in females) Renal cystic lesions, particularly…
Print Section Listen Aarskog syndrome (X-linked recessive) Hypertelorism Short nose Clinodactyly Brachydactyly Aase syndrome (autosomal dominant) Radial hypoplasia Cleft palate Ventricular septal defect Urogenital anomalies Acrocallosal syndrome (autosomal recessive) Agenesis…