Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 7.
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Epidemiology
It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between the severity of disease and age of diagnosis 3.
Associations
congenital heart disease (VSD, ASD, PDA, mitral regurgitation)
recurrent respiratory tract infections
Clinical presentation
Clinical features include:
short stature, short webbed neck
premature loss of dentition
pseudoclubbing: shortening of digits, pain in digits
optical atrophy, optic disc edema
hearing loss (conductive or sensorineural)
frontal and occipital headaches (due to basilar invagination)
craniofacial features: frontal bossing, widely spaced eyes, micrognathia, long philtrum, flat nasal bridge, coarse hair, low set ears and a low hairline
Pathology
It is associated with osteoporosis, bony deformities and acro-osteolysis. It follows an autosomal dominant inheritance but can also result from spontaneous de novo mutations.
Genetics
Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2 4.
Radiographic features
Hands and feet
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transverse band of osteolysis in distal phalanges is characteristic
distal to proximal osteolysis is also seen
Skull
bathrocephaly (bulging of squamous occipital bone)
delayed closure of sutures
thickening of the mastoids
aplasia of the frontal sinuses
platybasia with or without basilar invagination
Spine
biconcave vertebrae
Maxillofacial
hypoplastic maxilla
malalignment of teeth
wide mandibular angle
Treatment and prognosis
Management is symptomatic and involves regular follow-up. Prevention of osteoporosis, vitamin D and bisphosphonates may also have a role 6.
History and etymology
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
These involve other causes of acro-osteolysis and can be differentiated radiologically 5. Amongst others, they include the following: