Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes.
The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.
Australian Cranio-Facial Unit, Adelaide Children's Hospital.
S B
SB
Cantrell
M H
MH
Moore
J A
JA
Trott
R J
RJ
Morris
D J
DJ
David
D000168:Acrocephalosyndactylia / Q000473:pathology*; D003398:Craniosynostoses / Q000473:pathology; D003937:Diagnosis, Differential; D005146:Facial Asymmetry / Q000151:congenital; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D010641:Phenotype; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities