Pallister-Killian syndrome.
METHODS
Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples


METHODS
- Clinical Procedure: - Specialty: Pediatrics and Neonatology.


OBJECTIVE
Congenital defects/diseases.


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.


METHODS
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.
Department of Obstetrics and Gynecology, St. John Hospital and Medical Center, Detroit, MI, U.S.A.
Aarthi
A
Srinivasan
Department of Obstetrics and Gynecology, St. John Hospital and Medical Center, Detroit, MI, U.S.A.
Debra
D
Wright
Mosaicism; Nuchal Translucency Measurement; Polyhydramnios; Tetrasomy