Multiple renal cysts, ear anomalies, disordered hair growth and unusual facies: a new entity?
A patient is described with renal, ear and hair abnormalities. The patient also had a distinctive facial appearance. No similar patients have been described and it is likely this patient represents a new entity.
McCann
Emma
E
Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK. emma.mccann@rlc.nhs.uk
Sweeney
Elizabeth
E
Daly
Janette
J
D002356:Cartilage / Q000002:abnormalities; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D052177:Kidney Diseases, Cystic / Q000150:complications*; D017880:Limb Deformities, Congenital / Q000150:complications