A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype.
A patient presenting with the findings of Acromegaloid Facial Appearance (AFA) syndrome is reported. This case also shows pericardial effusion and skin lesions that both enlarge the spectrum of the phenotype and lump AFA syndrome with another proposed distinct condition [Irvine et al., (1996) J med Genet 33:972-974].
Zelante
L
L
Gasparini
P
P
Savoia
A
A
Lomuto
M
M
Pellicano
R
R
D000172:Acromegaly; D000328:Adult; D019066:Facies; D005260:Female; D006801:Humans; D010641:Phenotype; D012867:Skin / Q000473:pathology