Pallister-Killian syndrome

Area of Science:

• Genetics and Developmental Biology
• Prenatal Diagnosis
• Pediatric Rare Diseases

Background:

• Pallister-Killian syndrome (PKS) is a rare, sporadic, polydysmorphic condition with highly variable clinical features.
• PKS can range from mild to severe intellectual disability and birth defects.
• This report details the first case of PKS diagnosed prenatally at the institution.

Purpose of the Study:

• To report a case of Pallister-Killian syndrome diagnosed prenatally.
• To emphasize the importance of genetic counseling and advanced diagnostic techniques.
• To illustrate the phenotypic variability and diagnostic challenges of PKS.

Main Methods:

• A pregnant patient underwent genetic counseling due to advanced maternal age and increased Down syndrome risk.
• Fetal ultrasound revealed findings suggestive of chromosomal abnormalities, including increased nuchal fold thickness and shortened limbs.
• Amniocentesis followed by karyotyping identified an isochromosome 12p, confirming the diagnosis of PKS.

Main Results:

• Prenatal diagnosis of Pallister-Killian syndrome was achieved via amniocentesis and karyotyping.
• Postnatal examination of the infant revealed characteristic PKS features: frontal bossing, flattened nasal bridge, mid-facial hypoplasia, low-set ears, widely spaced nipples, and undescended testes.
• Other findings included a grooved palate, nuchal fold thickening, shortened extremities, and polydactyly.

Conclusions:

• Pallister-Killian syndrome occurs sporadically.
• Prenatal diagnosis of PKS is feasible and can be achieved through cytogenetic analysis.
• Early diagnosis allows for appropriate genetic counseling and management planning.