"First described by Nicholas Hajdu (1908-1987), a Hungarian-English radiologist, in 1948 as cranioskeletal dysplasia, and later in 1965 by William D Cheney (1899-1985), an American radiologist, as acro-osteolysis 1,2."
"Differential diagnosis "
"Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2 4."
"congenital heart disease (VSD, ASD, PDA, mitral regurgitation)"
"Raynaud phenomenon"
Expected headings
"Associations"
"Hands and feet"
"Skull"
"Spine"
"Maxillofacial"
"Differential diagnosis "
"craniofacial features: frontal bossing, widely spaced eyes, micrognathia, long philtrum, flat nasal bridge, coarse hair, low set ears and a low hairline"
"First described by Nicholas Hajdu (1908-1987), a Hungarian-English radiologist, in 1948 as cranioskeletal dysplasia, and later in 1965 by William D Cheney (1899-1985), an American radiologist, as acro-osteolysis 1,2."