Campomelic Dysplasia
KEY POINTS Print Section Listen Key Points Distinct skeletal dysplasia characterized by bowing of the long bones of the lower extremity, phenotypic sex reversal, flat face, micrognathia, cleft palate, and…
Persistent Cloaca
KEY POINTS Print Section Listen Key Points Persistent cloaca refers to the continuation of the early embryological stage of a common opening for the rectum, vagina, and urinary tract. This…
Ambiguous Genitalia
KEY POINTS Print Section Listen Key Points Incidence is 1 in 5,000 livebirths. Most common cause is congenital adrenal hyperplasia (CAH), resulting in a virilized genetic female. This autosomal recessive…
Sirenomelia
KEY POINTS Print Section Listen Key Points Incidence is 1 in 60,000 livebirths. Results from localized injury or insult to caudal end of developing embryo between days 13 and 22….
Renal Agenesis
KEY POINTS Print Section Listen Key Points Developmental anomaly that occurs at 4 to 6 weeks of embryonic life. Incidence of bilateral renal agenesis is 1 in 3000 livebirths;for unilateral…
Ellis–van Creveld syndrome
KEY POINTS Print Section Listen Key Points Autosomal recessive condition that results in short-limbed dwarfism, polydactyly, congenital heart disease, oral frenulae, defective teeth, and generally normal intelligence. Thirty percent of…
Hemivertebrae
KEY POINTS Print Section Listen Key Points Hemivertebrae are a major cause of congenital scoliosis and kyphoscoliosis. Incidence is 0.3 to 1 per 1000 livebirths. More common in females. Vertebral…
Polycystic Kidney Disease
KEY POINTS Print Section Listen Key Points Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilaterally enlarged echogenic kidneys. Autosomal dominant polycystic kidney disease (ADPKD) is the most common…
Hydronephrosis: Ureteropelvic Junction Obstruction
KEY POINTS Print Section Listen Key Points Ureteropelvic junction obstruction (UPJ) prevents urinary flow from the renal pelvis to the ureter, and is the most common cause of significant neonatal…
Hydronephrosis: Ectopic Ureterocele
KEY POINTS Print Section Listen Key Points Ectopic ureteroceles are associated with duplex collecting systems and are more common in females. An ectopic ureterocele can be stenotic or refluxing. Ectopic…
