A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
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.
Academic Unit of Medical Genetics and Regional Genetic Service, University of Manchester, St Mary's Hospital, Manchester Royal Preston Hospital, Sharoe Green Lane North, Fulwood, Preston, UK.
Audrey
A
Smith
Kathryn
K
Leask
Pamela
P
Tomlin
Dian
D
Donnai
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D004827:Epilepsy / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D023281:Genomics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011629:Puberty, Precocious / Q000235:genetics / Q000473:pathology*