title: Hajdu-Cheney syndrome: a case report with review of literature.
abstract: Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.
authors.affiliation: Department of Radiology, Goa Medical College, Bambolim, Goa, India.
authors.forename: Shailesh
authors.initials: S
authors.lastname: Palav
authors.affiliation: Department of Radiology, Goa Medical College, Bambolim, Goa, India.
authors.forename: Jeevan
authors.initials: J
authors.lastname: Vernekar
authors.affiliation: Department of Radiology, Goa Medical College, Bambolim, Goa, India.
authors.forename: Sweta
authors.initials: S
authors.lastname: Pereira
authors.affiliation: Department of Endocrinology, Goa Medical College, Bambolim, Goa, India.
authors.forename: Ankush
authors.initials: A
authors.lastname: Desai
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005529:Foot Bones / Q000000981:diagnostic imaging; D031845:Hajdu-Cheney Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000209:etiology; D050276:Hand Bones / Q000000981:diagnostic imaging; D006801:Humans; D010014:Osteolysis / Q000000981:diagnostic imaging; D010024:Osteoporosis / Q000209:etiology; D011379:Prognosis; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging
keywords: Acro-osteolysis; Hajdu-Cheney syndrome; NOTCH 2; acro-dento-osteo-dysplasia; wormian bones