Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome.
The diagnosis of Börjeson-Forssman-Lehmann syndrome in a patient reported by Veall et al. (1979) is challenged. The clinical findings were compared with those in 32 patients with the Noonan syndrome using the extensive description, dermatoglyphics, photographs and anthropometric measurements provided in the paper. The patient's findings are compatible with the Noonan syndrome based on his overall phenotypic similarity to the 32 patients, even though the severity of his mental retardation is atypical.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis*