TY - JOUR
T1 - The pointer syndrome
T2 - A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties
AU - Huq, A. H.M.Mahbubul
AU - Braverman, Richard M.
AU - Greenberg, Frank
AU - Bacino, Carlos A.
AU - Rimoin, David L.
AU - Lachman, Ralph S.
AU - Levin, Michael L.
PY - 1997/1/20
Y1 - 1997/1/20
N2 - We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abnormalities. The parents are first cousins once removed and are unaffected. These cases appear to represent a previously undescribed autosomal recessive disorder.
AB - We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abnormalities. The parents are first cousins once removed and are unaffected. These cases appear to represent a previously undescribed autosomal recessive disorder.
KW - camptodactyly
KW - neonatal feeding difficulties
KW - skeletal abnormalities
UR - http://www.scopus.com/inward/record.url?scp=0031055876&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19970120)68:2<225::AID-AJMG21>3.0.CO;2-V
DO - 10.1002/(SICI)1096-8628(19970120)68:2<225::AID-AJMG21>3.0.CO;2-V
M3 - Article
C2 - 9028464
AN - SCOPUS:0031055876
VL - 68
SP - 225
EP - 230
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 0148-7299
IS - 2
ER -