Jarcho–Levin Syndrome
KEY POINTS Print Section Listen Key Points “Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. Inheritance may…
KEY POINTS Print Section Listen Key Points “Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. Inheritance may…
KEY POINTS Print Section Listen Key Points Most common form of short-limbed dwarfism. Incidence is 1 in 26,000 livebirths. Most consistent sonographic finding is shortening of long bones between 21…
KEY POINTS Print Section Listen Key Points Rare hereditary metabolic bone disorder characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Incidence is 1 in 100,000 births…
KEY POINTS Print Section Listen Key Points Liver tumors account for only 5% of fetal and neonatal tumors. The most common tumor is hemangioma followed by mesenchymal hamartoma and hepatoblastoma….
KEY POINTS Print Section Listen Key Points Syndactyly refers to apparent fusion of digits, either osseous or cutaneous. Prenatal ultrasound examination reveals an inability to distinguish separate digits of fingers…
KEY POINTS Print Section Listen Key Points Wilms’ tumor is a common cause of renal neoplasms in children but is rarely diagnosed in utero. The main differential diagnosis in Wilms’…
KEY POINTS Print Section Listen Key Points Medial deviation of finger at distal interphalangeal joint. Fifth finger most commonly affected. Not an anomaly. Usually due to developmental delay or arrest….
KEY POINTS Print Section Listen Key Points Clinically and genetically heterogeneous disorder manifested by bone fragility and low bone mass. Seven distinct subtypes exist. Severity is as follows: type II…
KEY POINTS Print Section Listen Key Points Posterior urethral valves (PUVs) are the most common cause of bladder outlet obstruction in males. PUVs account for 10% of all urologic anomalies…
KEY POINTS Print Section Listen Key Points Most common intraocular tumor of childhood, with only a few cases diagnosed antenatally. Retinoblastoma develops in cells that have mutations in both copies…