The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties.
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.
Huq
A H
AH
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Braverman
R M
RM
Greenberg
F
F
Bacino
C A
CA
Rimoin
D L
DL
Lachman
R S
RS
Levin
M L
ML
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D001068:Feeding and Eating Disorders / Q000150:complications / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000150:complications / Q000175:diagnosis; D008297:Male; D011859:Radiography; D013391:Sucking Behavior; D013577:Syndrome