Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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February 10, 2014
Hadju-Cheney Syndrome
- Hadju-Cheney syndrome (HCS or arthro-dento-osteo-dysplasia) presents at birth with dysmorphic facies. It can occur sporadically or via autosomal dominant inheritance.
- Clinical Features: Facial dysmorphism: frontal bossing, broad nose with flared nostrils, receding chin, bushy eyebrows, low set ears with large ear lobules, dentigogenesis imperfecta. General features: short stature, short fingers, hyperextensible joints, kyphosis, conductive hearing loss, and speech impairment.
- Key Diagnostic Features:
- Craniofacial abnormalities: bathrocephaly, flat cranial base, basilar invagination, persistence of cranial sutures in late adult life, wormian bones, deep sella turcica, hypoplastic facial bones, underdevelopment of sinuses, horizontal clivus, craniofacial osteoporosis.
- Osteolysis of the terminal phalanges of the hands and feet, and other skeletal abnormalities (including generalised osteoporosis, fractures, and vertebral abnormalities)
- CNS abnormalities: basilar invagination with tip of odontoid indenting upon the brainstem, hydrocephalus, Chiari malformation, atrophic pituitary gland, empty sella
- For the diagnosis, two important radiographic features are acro-osteolysis (of variable degree in the distal phalanges of the hands and feet) and wide cranial sutures (particularly the lambdoid suture) with multiple wormian bones
- DDx: Acro-osteolytic syndromes and disorders with multiple wormian bones
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