A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.
A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2-5. Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative.
Kantaputra
Piranit N
PN
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand. dnpdi001@chiangmai.ac.th
Pongprot
Yupada
Y
Praditsap
Oranud
O
Pho-iam
Theeraphong
T
Limwongse
Chanin
C
D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002352:Carrier Proteins; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D005260:Female; D055428:Growth Differentiation Factor 5; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000503:physiopathology*; D014071:Tooth Abnormalities / Q000235:genetics / Q000473:pathology; D000099176:Noggin Protein
D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D055428:Growth Differentiation Factor 5; D000099176:Noggin Protein; C525893:GDF5 protein, human