Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome

Abstract

A detailed 3D examination of the fetal face may help to guide diagnosis, particularly when the only sign detected on ultrasound is polyhydramnios, as in the case reported here.

Pallister‐Killian syndrome: Review of fetal phenotype

“…In this case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between the PKS and Fryns syndromes. Sananes et al reported a case in which the importance of 3D ultrasound examination of facial features of prenatal PKS was described …”

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

“…However, typical PKS features have been reported in the most recently reviewed cases, including hypertelorism/telecanthus, flattened facial profile, small nose, and long philtrum, sporadically associated with a prenasal edema. Although facial signs may be subtle, 3D ultrasound examination provides a useful tool for experienced clinicians and can aid in the diagnosis (Desseauve et al ; Libotte et al ; Sananes et al ).…”

“…In a review of the literature, prenatal findings, including CDH, ventriculomegaly, congenital heart disease, polyhydramnios, and rhizomelic shortening have been described in over 80 probands with PKS. However, the majority have been reports of isolated cases (Gilgenkrantz et al ; Hunter et al; Steinbach and Rehder ; Shivashankar et al ; Soukup and Neidich ; Bresson et al ; McLeod et al ; Sharland et al ; Priest et al ; Tejada et al ; Blancato et al ; McLean et al ; Bernert et al ; Valerio et al ; Boyle et al ; Horn et al ; Los et al ; Brøndum‐Nielsen and Mikkelsen ;Takakuwa et al ; Chiesa et al ; Zollino et al ; Langford et al ; Paladini et al ; Choo et al ; Velagaleti et al ; Chiurazzi et al ; de Ravel et al ; Polityko et al ; O Bartsch et al ; Delahaye et al ; Gerdes et al ; Abad et al ; Ramírez et al ; Liberati et al ; Kim et al ; Kolarski et al ; Kunz et al ; Mourali et al ; Chaouachi et al ; Park et al ; Chen et al ; Sananes et al ; Murakami et al ; Johnstone and Jones ; Aydin et al ; Özlü et al ; Srinivasan and Wright ; Santamaria et al ; Xi et al ) or a small cohort of cases (Warburton et al ; Wilson et al ; Mowery‐Rushton ; Schubert et al ; Mathieu et al ; Doray et al ; Min‐Hyoung Kim et al ; de Athayde Costa et al ; Desseauve et al ; Libotte et al…”

Targeted prenatal diagnosis of Pallister-Killian syndrome

“…We reviewed published cases of prenatally diagnosed PKS in second and third trimesters of pregnancy limited to the last 10 years, and we searched through Online Mendelian Inheritance in Man (OMIM), Winter-Baraitser Dysmorphology Database (WBDD) and Phenomizer database to identify anomalies or markers present in PKS that could potentially be seen on prenatal ultrasound in second and third trimesters of pregnancy. [24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] Analysis of collected data was presented. In case of descriptive, retrospective study, institutional ethics committee permission was not necessary; nevertheless, internal bioethics committee has approved study design.…”

“…We have performed retrospective analysis of ultrasound findings and cytogenetic results in a cohort of all fetuses with PKS diagnosed prenatally at our institution between October 2014 and August 2015. We reviewed published cases of prenatally diagnosed PKS in second and third trimesters of pregnancy limited to the last 10 years, and we searched through Online Mendelian Inheritance in Man (OMIM), Winter–Baraitser Dysmorphology Database (WBDD) and Phenomizer database to identify anomalies or markers present in PKS that could potentially be seen on prenatal ultrasound in second and third trimesters of pregnancy . Analysis of collected data was presented.…”