Often referred to as peripheral dysostosis. Marked hyperextensibility of the
fingers and precocious osteoarthritis of the hips. Characteristically, the
middle phalanges represent an “angel-shaped phalanx,” which results from
modification of the epiphysis, diaphysis, and metaphysis, resembling the
little angels used to decorate a Christmas tree.
Extremely rare; exact incidence
unknown. Autosomal dominant.
Clinical features and distinctive findings on
radiologic examination of the phalanges. Angel-shaped phalanx results from a
disturbance in the development of the epiphysis, diaphysis, and metaphysis
resembling the little angels used to decorate a Christmas tree. The wings
are formed by a diaphyseal cuff, the skirt by a cone-shaped epiphysis, and
the head by the distal pseudoepiphysis. Hyperextensibility of the fingers
and precocious arthritis of the hips (coxarthrosis).
Hypodontia (congenital absence of up to five teeth) is often present.
Positioning may be difficult, depending
on the procedure and degree of coxarthrosis. Careful direct laryngoscopy is
required in the presence of dental anomalies.
Arkless-Graham Syndrome: Short hands and feet, short stature,
and brachycephaly. Distinct facies characterized by prominent mandible
(protruding jaw); small, broad, upturned nose with flat nasal bridge; and
small mouth. Other features include skin, genital, dental, and
musculoskeletal abnormalities. Mental retardation is present in 90% of
children and can be severe.
Pseudohypoparathyroidism: Very rare disorder characterized by
renal and/or bony anomalies caused by insensitivity to parathyroid hormone.
Warashina H, Sakano S, Kitamura S, et al: Total hip arthroplasty for a
patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case
report. Nagoya J Med Sci
Graham JM Jr, Krakow D, Tolo VT, et al: Radiographic findings and Gs-alpha
bioactivity studies and mutation screening in acrodysostosis indicate a
different etiology from pseudohypoparathyroidism. Pediatr Radiol
Giedion A, Prader A, Fliegel C, et al: Angel-shaped phalango-epiphyseal
dysplasia (ASPED): Identification of a new genetic bone marker. Am J Med Genet