کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814242 1569516 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
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
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
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
چکیده انگلیسی

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.


► We describe a patient which shows similarities with Yunis-Varon syndrome (YVS).
► In addition the patient has primary pulmonary hypertension (PPH).
► Molecular confirmation of YVS is not yet possible.
► Previously one patient with YVS and PPH has been reported.
► Hence the presented syndrome might be classified as YVS with PPH or constitutes a new YVS like entity.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 55, Issue 1, January 2012, Pages 27–31
نویسندگان
, , , , , , , , , ,