Disease characterized by severe growth
retardation, mild facial anomalies, and markedly shortened hands and feet
secondary to short and stubby metacarpals and phalanges.
Approximately 30 cases have been
reported. Most cases seem to be sporadic; however, vertical
transmission also has been described, Because both sexes are affected, an
autosomal dominant mode of inheritance is most likely. Acromicric dysplasia,
geleophysic dysplasia, and Moore-Federmann syndrome may be allelic forms of
the same disorder of different disturbances of the same metabolic pathway.
Histologic, histochemical, and electron
microscopic examinations of the growth cartilage reveal lesions having
disorganization of the growth zone with islands of cells, some showing signs
of degeneration. Abnormal organization of collagen results in thick rims
surrounding the cells and wide fibers in the interterritorial matrix. Most
chondrocytes contain large accumulations of glycogen.
Based on the clinical features. Radiologic examination
reveals short stubby metacarpals and phalanges with notching of the second
metacarpal on the radial side and the fifth metacarpal on the ulnar side.
The shapes of the epiphysis and metaphysis of the long bones are almost
normal, except for a slight deformation of the femoral heads in some
Mild facial anomalies, marked shortening of hands
and feet, and growth retardation, which is severe in the majority of
patients. Body length at birth is usually normal, but short stature becomes
progressively evident with increasing age and reaches a final body height of
approximate 130 cm. Mild dysmorphic features that are present at birth most
often disappear later in life. Intelligence usually is normal. Joint
mobility may be limited secondary to severe contractures. Other possible
features include spine abnormalities, hoarse voice, and frequent infections
of the ears and upper airway. Apart from short metacarpals and phalanges, a
notch on the radial side of the second metacarpal, a notch on the ulnar side
of the fifth metacarpal, and a notch along the internal border of the
femoral heads, no other major radiographic abnormalities have been
described. Storage phenomena (mucopolysaccharides), such as progressive
thickening of the skin and mitral and aortic valves, and hepatomegaly have
been described in a few patients. However, these storage phenomena seem to
be more characteristic for Geleophysic
Positioning may be difficult. Because of
recurrent infections of the upper airway, careful preoperative examination
should ensure that the patient's airway is optimized for the procedure.
Chest radiograph may be required; if in doubt, echocardiography may help
assess valvular and cardiac function.
Maroteaux P, Stanescu R, Stanescu V, et al: Acromicric dysplasia. Am J Med Genet
Hennekam RCM, van Bever Y, Oorthuys JWE: Acromicric dysplasia and
geleophysic dysplasia: similarities and differences. Eur J Pediatr
Faivre L, Le Merrer M, Baumann, et al: Acromicric dysplasia: Long term
outcome and evidence of autosomal dominant inheritance. J Med Genet 38:745,