Article
A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
Clinical dysmorphology - 1 Jul 2008
Smith Audrey, Leask Kathryn, Tomlin Pamela, Donnai Dian
Abstract excerpt
Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Craniofacial Abnormalities
- Epilepsy
- Family Health
- Fatal Outcome
- Female
- Genes, Recessive
- Genomics
- Humans
- Intellectual Disability
- Magnetic Resonance Imaging
- Male
- Muscle Hypotonia
- Phenotype
- Puberty, Precocious