TY - JOUR
T1 - Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds
AU - Storm, Andrea L.
AU - Johnson, Jason M.
AU - Lammer, Edward
AU - Green, Glenn E.
AU - Cunniff, Christopher
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2005/10/1
Y1 - 2005/10/1
N2 - We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.
AB - We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.
KW - Auriculo-condylar syndrome
KW - Congenital auricular cleft
KW - Ear malformation
KW - Mandibular condyle hypoplasia
KW - Micrognathia
KW - Microstomia
KW - Question mark ear
KW - Temporomandibular joint abnormality
UR - http://www.scopus.com/inward/record.url?scp=25644455292&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=25644455292&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30883
DO - 10.1002/ajmg.a.30883
M3 - Article
C2 - 16114046
AN - SCOPUS:25644455292
SN - 1552-4825
VL - 138 A
SP - 141
EP - 145
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -