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Cureus Dec 2023The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios,...
The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features. Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS), and Simpson-Golabi-Behmel syndrome (SGBS1) have certain similar clinical characteristics with Perlman syndrome. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. Here, we present a case with the classic clinical features of Perlman syndrome and a DIS3L2 gene deletion that was discovered prenatally.
PubMed: 38161545
DOI: 10.7759/cureus.49777 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jul 2023In this article, we describe a newborn with Prune belly syndrome who presented with left ventricular dilation due to an extensive intralobar sequestration of the left...
In this article, we describe a newborn with Prune belly syndrome who presented with left ventricular dilation due to an extensive intralobar sequestration of the left lung. Pulmonary sequestration was combined with congenital cystic adenomatoid malformation and also had coarctation of the aorta. Percutaneous closure of the anomalous aberrant artery feeding the sequestrated lung and balloon angioplasty for coarctation resulted in prompt regression of the left ventricular enlargement in the catheterization lab.
PubMed: 37664775
DOI: 10.5606/tgkdc.dergisi.2023.23448