Pallister-Killian syndrome

Pallister-Killian syndrome Relevant markers:

Anteverted nostrilsFlat nasal bridgeFrontal bossingHydropsHypoplastic noseLong philtrumMesomelia of forearmsMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosPulmonary valve stenosisRhizomelia/short femurRhizomelia/short humerusSacral appendageShort fibulaShort radiusShort tibiaShort ulnaSmall/collapsed/absent stomachSymmetric IUGR/SGAThin upper lipThick subcutaneuos tissueNasal bone hypoplasia / aplasiaMandibular prognathismAbsent stomachCongenital diaphragmatic hernia (CDH)

Parents markers:

Abnormal profileFaceIntrauterine growth retardation (IUGR/SGA/FGR)Ventricular septal defect (VSD)Ventriculomegaly

Incidence:

1/25000 — -

Involved genes:
(gene — definition — chromosome)

Tetrasomy 12p

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2009	Arch Gynecol Obstet	Case report	Read on PubMed
2009	Korean J Lab Med	Case report	Read on PubMed
2010	J Matern Fetal Neonatal Med	Case report	Read on PubMed
2010	Tunis Med	Case report	Read on PubMed
2011	Clin Exp Obstet Gynecol	Case Report	Read on PubMed
2012	Ultrasound Obstet Gynecol	Case report	Read on PubMed
2014	Am J Case Rep	Case report and review of the literature	Read on PubMed
2014	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2016	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2016	J Obstet Gynaecol	Case report	Read on PubMed