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Very rare diffuse connective tissue disorder with osteolysis involving mainly head and musculoskeletal system.

Cheney Syndrome; Arthrodentoosteodysplasia; Osteopathia Dysplastica Familiaris; Familial Osteodysplasia; Cranioskeletal Dysplasia with Acroosteolysis.

First described by N. Hajdu and R. Kauntze in 1948 and later by W.D. Cheney in 1965.

Approximately 60 cases have been described.

Autosomal dominant. Sporadic cases apparently represent new mutations.

Unknown. The disorder probably results from defective development of bone rather than destruction of bone already formed.

Based on the clinical findings of short stature, hand pain, weakness, pathologic fractures, and distal osteolytic lesions.

The clinical phenotype is variable, and none of the patients have all the signs mentioned in the following description. At birth, many of these patients look normal or only show mild and unspecific dysmorphic signs, such as downslanted palpebral fissures, flat and broad nasal bridge, long philtrum, low-set ears, or hypertelorism. However, the facial appearance changes over time, that is, they become coarser, not starting before early or middle childhood. The diagnosis may be delayed until the patient is in the second or even third decade, when they typically present with swelling and pain of the fingers. The features of this disorder may involve the head and neck (normal intelligence, although mild developmental delay has been described in some cases), progressive hearing loss (one third of patients), speech abnormalities, bathrocephaly (a form of posterior sagittal synostosis), platybasia (basilar invagination, a developmental deformity resulting from seemingly upward pushing of the cervical spine and consecutive bulging of the occipital bone), multiple wormian bones, enlarged pituitary fossa without endocrine abnormalities, open cranial sutures, absent or hypoplastic frontal sinuses, low-set ears, midfacial flattening, micrognathia or retrognathia (>50% of patients), cleft lip, high arched or cleft palate, early loss of teeth, hypertelorism, limited neck movement) and the musculoskeletal system (with short stature in >50% of patients), generalized osteoporosis predisposing to multiple fractures, terminal phalangeal acroosteolysis, cervical spine instability, vertebral anomalies (collapsed “fishbone” vertebrae), kyphosis, scoliosis, and joint hyperextensibility and dislocations. Other features are associated with the respiratory system (upper airway obstruction, vocal cord paralysis, deep voice), the nervous system [Arnold-Chiari Syndrome, hydrocephalus and cranial nerve damage (both possibly caused by platybasia), mental retardation, sensory changes such as pain and paresthesias may accompany the acroosteolytic lesions], the cardiovascular system (atrial and ventricular septal defects, patent ductus arteriosus, mitral and aortic valve disease, arterial hypertension), the genitourinary tract (cystic kidney disease in 14% of patients), hypoplastic kidneys, glomerulonephritis, reflux nephropathy, hypogonadism), the abdomen (intestinal malrotation, umbilical and inguinal hernias, hepatosplenomegaly), and the skin (hirsutism in childhood, dry and coarse skin, thick scalp hair). Although life expectancy reportedly has been normal in these patients, the literature supporting this statement is insufficient.

The stability of the cervical spine should be assessed clinically and radiologically. Echocardiography should be obtained if cardiac lesions are suspected. The presence of hydrocephalus with increased ...

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