Article
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
American journal of medical genetics. Part A - 1 Nov 2013
Lin Angela E, Traum Avram Z, Sahai Inderneel, Keppler-Noreuil Kim, Kukolich Mary K, Adam Margaret P, Westra Sjirk J, Arts Heleen H
Abstract excerpt
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous...
Topics
- Bone and Bones
- Comparative Genomic Hybridization
- Craniosynostoses
- DNA Mutational Analysis
- Ectodermal Dysplasia
- Humans
- Infant
- Infant, Newborn
- Karyotyping
- Male
- Phenotype