Congenital diaphragmatic hernia and early lethality in PIGL-related disorder

We report on three male siblings who presented prenatally with a nearly identical combination of congenital anomalies and who died shortly after preterm birth. The first baby was a singleton pregnancy, and the other two babies were dichorionic diamniotic twins. Key features included: left-sided cong...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of medical genetics 2022-05, Vol.65 (5), p.104501-104501, Article 104501
Hauptverfasser:	Winter-Paquette, Laura M., Al Suwaidi, Hessa H., Sajjad, Yasmin, Bricker, Leanne
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple CHIME syndrome Cleft Palate Coloboma Congenital diaphragmatic hernia Facies Female Fryns syndrome Glycosylphosphatidylinositol (GPI) anchor synthesis pathway Hearing Loss, Conductive Heart Defects, Congenital Hernia, Diaphragmatic Hernias, Diaphragmatic, Congenital - genetics Humans Ichthyosis Infant, Newborn Intellectual Disability - genetics Limb Deformities, Congenital Mabry syndrome Male N-Acetylglucosaminyltransferases - genetics Neurocutaneous Syndromes Phosphorus Metabolism Disorders PIGL gene Pregnancy Premature Birth Seizures Syndrome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!