Hajdu-Cheney-Syndrom
Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature .
Clinical presentation
It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between severity of disease and age of diagnosis . Clinical features include:
- short stature; premature loss of dentition; short webbed neck
- 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.
Genetic markers
Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2 .
Associations
- congenital heart disease (VSD, ASD, PDA, Mitral regurgitation)
- polycystic kidney disease
- recurrent respiratory tract infections
Radiographic features
Hands and feet
- acro-osteolysis
- 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
- J-shaped enlarged sella
- dolichocephaly
- platybasia with or without basilar invagination
Spine
- kyphoscoliosis
- spondylolisthesis
- 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 .
History and etymology
First described by Nicholas Hajdu (1908–1987), Hungarian-English radiologist in 1948 as cranioskeletal dysplasia and later in 1965, by William D. Cheney (1899–1985), American radiologist as acro-osteolysis .
Differential diagnosis
These involve other causes of acro-osteolysis and can be differentiated radiologically .Amongst others, they include the following:
Siehe auch:
Assoziationen und Differentialdiagnosen zu Hajdu-Cheney-Syndrom:
