An unusual case of ectodermal dysplasia.
The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.
D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006530:Hepatorenal Syndrome / Q000150:complications; D006801:Humans; D008297:Male; D009264:Nails, Malformed; D013226:Status Epilepticus / Q000150:complications; D014034:Toes / Q000002:abnormalities