Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
Hajdu-Cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. The clinical and radiologic characteristics of Hajdu-Cheney syndrome develop and progress with age. Many of the medical problems that arise in this syndrome cluster in specific age ranges. Case reports of six affected individuals in two additional families and a summary of the English literature is presented with emphasis on the changing physical findings and medical sequelae over time.
Brennan
A M
AM
Department of Medical Genetics, University of Wisconsin-Madison, USA.
Pauli
R M
RM
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001862:Bone Resorption / Q000235:genetics; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006311:Hearing Disorders; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D014786:Vision Disorders