New case of the Carey-Fineman-Ziter syndrome.
We present a further case, the fourth known to us, of the Carey-Fineman-Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius-like clinical picture, is emphasised.
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
M
M
Baraitser
W
W
Reardon
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005530:Foot Deformities / Q000235:genetics; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome