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.
Smith
Audrey
A
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.
Leask
Kathryn
K
Tomlin
Pamela
P
Donnai
Dian
D
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*