Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.
Reardon
W
W
Department of Clinical Genetics, Hospital for Sick Children, London.
Hall
C M
CM
Dillon
M J
MJ
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics; D012886:Skull / Q000002:abnormalities*