Occipital Horn syndrome in a 2-year-old boy.
The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized.
De Paepe
A
A
Centre for Medical Genetics, University Hospital Gent, Belgium. Anne.DePaepe@rug.ac.be
Loeys
B
B
Devriendt
K
K
Fryns
J P
JP
D000251:Adenosine Triphosphatases / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D027682:Cation Transport Proteins; D002968:Clavicle / Q000000981:diagnostic imaging; D000073840:Copper-Transporting ATPases; D003483:Cutis Laxa / Q000235:genetics / Q000473:pathology*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007596:Joints / Q000503:physiopathology; D008297:Male; D011859:Radiography; D011993:Recombinant Fusion Proteins; D012886:Skull / Q000000981:diagnostic imaging; D014960:X Chromosome
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases