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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.
Eur J Med Genet. 2012 Jan; 55(1):27-31.EJ

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.

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Authors+Show Affiliations

Reutter H
Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany. reutter@uni-bonn.de
Bagci S
No affiliation info available
Müller A
No affiliation info available
Gembruch U
No affiliation info available
Geipel A
No affiliation info available
Berg C
No affiliation info available
Eggermann T
No affiliation info available
Spengler S
No affiliation info available
Bartmann P
No affiliation info available
Rudnik-Schöneborn S
No affiliation info available

MeSH

Central Nervous System DiseasesCleidocranial DysplasiaEchoencephalographyEctodermal DysplasiaFemaleGestational AgeHeart Defects, CongenitalHumansHypertension, PulmonaryInfant, NewbornKaryotypeLimb Deformities, CongenitalMicrognathismToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22044576

Citation

Reutter, Heiko, et al. "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." European Journal of Medical Genetics, vol. 55, no. 1, 2012, pp. 27-31.
Reutter H, Bagci S, Müller A, et al. 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. Eur J Med Genet. 2012;55(1):27-31.
Reutter, H., Bagci, S., Müller, A., Gembruch, U., Geipel, A., Berg, C., Eggermann, T., Spengler, S., Bartmann, P., & Rudnik-Schöneborn, S. (2012). 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. European Journal of Medical Genetics, 55(1), 27-31. https://doi.org/10.1016/j.ejmg.2011.09.002
Reutter H, et al. 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. Eur J Med Genet. 2012;55(1):27-31. PubMed PMID: 22044576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Reutter,Heiko, AU - Bagci,Soyhan, AU - Müller,Andreas, AU - Gembruch,Ulrich, AU - Geipel,Annegret, AU - Berg,Christoph, AU - Eggermann,Thomas, AU - Spengler,Sabrina, AU - Bartmann,Peter, AU - Rudnik-Schöneborn,Sabine, Y1 - 2011/10/11/ PY - 2011/07/21/received PY - 2011/09/25/accepted PY - 2011/11/3/entrez PY - 2011/11/3/pubmed PY - 2012/6/6/medline SP - 27 EP - 31 JF - European journal of medical genetics JO - Eur J Med Genet VL - 55 IS - 1 N2 - 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. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/22044576/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_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(11)00113-3 DB - PRIME DP - Unbound Medicine ER -