Posterior helical pits.
Posterior helical pits are an easily overlooked finding. They are uncommon in the general population although they do occur as an isolated autosomal dominant trait. We have observed posterior helical pits as a feature in three syndromes only: Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome and Rubinstein-Taybi syndrome. We suggest that posterior helical pits, when present, are an excellent diagnostic handle.
Prescott
Trine E
TE
Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Forskningsveien 2b, 0027 Oslo, Norway. trine.prescott@rikshospitalet.no
Hennekam
Raoul C M
RC
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*