title: Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity.
abstract: Here we describe a patient with a new malformation syndrome which shows similarities with Yunis-Varon syndrome (YVS). Prenatal presentation included polyhydramnios, increased nuchal translucency, and bilateral hydrothoraces requiring pigtail insertion. Postnatal presentation revealed primary pulmonary hypertension (PPH), persistent hydrothoraces, one atrial and two ventricular septal defects, hypoplasia of the corpus callosum and cerebellar vermis, dilated interhemispheric ventricles, severe developmental delay with general muscular hypotonia, retinal anomalies, sparse scalp hair, sparse eyebrows and eyelashes, hypo- and aplastic nails, low-set dysplastic ears, loose nuchal skin, hypo- and aplastic distal phalanges of the toes as well as postnatal failure to thrive. High resolution molecular karyotyping in the patient did not reveal any causative chromosomal aberration. Since one patient with YVS and PPH has been previously reported, we assume a similar pathogenic pathway. However, molecular confirmation of the clinical diagnosis is not yet possible. It remains uncertain if the presented syndrome can be classified as YVS with PPH or if it constitutes a new YVS like entity.
authors: Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany. reutter@uni-bonn.de
authors: Heiko
authors: H
authors: Reutter
authors: Soyhan
authors: S
authors: Bagci
authors: Andreas
authors: A
authors: Müller
authors: Ulrich
authors: U
authors: Gembruch
authors: Annegret
authors: A
authors: Geipel
authors: Christoph
authors: C
authors: Berg
authors: Thomas
authors: T
authors: Eggermann
authors: Sabrina
authors: S
authors: Spengler
authors: Peter
authors: P
authors: Bartmann
authors: Sabine
authors: S
authors: Rudnik-Schöneborn
mesh_terms: D002493:Central Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D002973:Cleidocranial Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000473:pathology*; D004453:Echoencephalography; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000473:pathology*; D005260:Female; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D007231:Infant, Newborn; D059785:Karyotype; D017880:Limb Deformities, Congenital / Q000150:complications / Q000175:diagnosis* / Q000473:pathology*; D008844:Micrognathism / Q000150:complications / Q000175:diagnosis* / Q000473:pathology*; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology