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Pallister-Killian syndrome

Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)

Aarthi Srinivasan, Debra Wright

Department of Obstetrics and Gynecology, St.John Hospital and Medical Center, Detroit, MI, USA

Am J Case Rep 2014; 15:194-198

DOI: 10.12659/AJCR.890614

Available online:

Published: 2014-05-07

Background: Pallister-Killian syndrome (PKS) is a rare, sporadic, polydysmorphic condition that often has highly distinctive features. The clinical features are highly variable, ranging from mild to severe intellectual disability and birth defects. We here report the first case of PKS diagnosed at our institution in a patient in the second trimester of pregnancy.
Case Report: A pregnant 43-year-old woman presented for genetic counseling secondary to advanced maternal age and an increased risk for Down syndrome. Ultrasound showed increased fetal nuchal fold thickness, short limbs, polyhydramnios, and a small stomach. The ultrasound evaluation was compromised due to the patient’s body habitus. The patient subsequently underwent amniocentesis and the karyotype revealed the presence of an isochromosome in the short arm of chromosome 12 consistent with the diagnosis of Pallister-Killian syndrome. Postnatally, the infant showed frontal bossing, a flattened nasal bridge, mid-facial hypoplasia, low-set ears, a right upper deciduous tooth, grooved palate, nuchal fold thickening, widely spaced nipples, left ulnar polydactyly, simian creases, flexion contractures of the right middle finger, shortened upper extremities, undescended left intraabdominal testis, and right inguinal testis.
Conclusions: The occurrence of PKS is sporadic in nature, but prenatal diagnosis is possible.

Keywords: Mosaicism, Nuchal Translucency Measurement, Polyhydramnios, Tetrasomy