R A D I O L O G I C A L C A S E

Pyle-type metaphyseal dysplasia

Adejimi O. Adeniji, MD

CASE SUMMARY
A 3-year-old girl came to the radiol- A B C D
ogy department from the genetics clinic,
where she was referred because of
widening of the bones in her legs. There
was concern that other bones were
involved.
The patient was delivered by sponta-
neous vaginal delivery at term, after
an uneventful pregnancy and weighed
6 pounds, 12 ounces.
She had a history of genu valgum,
which was noticed at 13 months of age.
Her prior medical and surgical histo-
ries were not significant. There was no
history of bony fractures, hip disloca-
tion or mental retardation.
She had a maternal half-sister who
was 12 years old and healthy and the
patient also had a younger 2-year-old
full sister who had started to show the FIGURE 1. “Erlenmeyer flask” femoral deformity in the right (A )and left (B) femurs with lat-
same signs of widening of the leg bones eral S-shaped bowing of the right (C) and left (D) tibiae.
and genu valgum.
There was no history of consanguin- IMAGING FINDINGS Differential diagnosis: Chronic ane-
ity. Her developmental history was also Skeletal survey revealed a mildly mia (e.g. Sickle-cell disease), osteopetro-
within normal limits. hyperostotic skull, with mild frontal sis, Gaucher disease and Niemann-
Physical examination revealed her bossing. There was metaphyseal widen- Pick disease.
weight to be slightly beneath the 50th ing of the long bones. Lateral bowing of
percentile and her height was just above the tibiae produced an S-shaped config- DISCUSSION
the 50th percentile. uration (Figures 1C and 1D). However, Pyle-type metaphyseal dysplasia is
She had no facial dysmorphism, the spine was normal (Figure 5). an extremely uncommon and rare
with no obvious clinodactyly, poly- genetic skeletal disorder inherited in an
dactyly or syndactyly. No dental caries DIAGNOSIS autosomal-recessive pattern (Gorlin et
were noted. There was no evidence of Pyle-type metaphyseal dysplasia (or al. 1970.1 This means that both parents
scoliosis or platyspondyly. Pyle’s disease) are unaffected, but there is a 25%

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A B

FIGURE 2. Undertubulation of both humeri in their proximal two-thirds.

A B A B

FIGURE 3. Undertubulation of the distal FIGURE 4. Skull radiographs, AP and lateral views. There is mild sclerosis of the skull base
two-thirds of the radius and ulna. Inciden- with prominence of the frontal bones
tally noted, is lucency in the left wrist (right
arrow), which could be either due to a vac-
uum phenomenon or artifactual.

chance the affected alleles will pass to a
developing embryo and produce the
widened biones. The actual gene or
genetic defect is unknown, and cannot
therefore be tested. The striking radi-
ographic manifestations contrast with
the relatively normal clinical features.
Genu valgum is the only consistent
abnormality.
Pyle first described the skeletal
anomaly in 1931. Less than 35 genuine
cases have since been reported.
Pyle-type metaphyseal dysplasia is
clinically, radiographically and geneti-
cally distinct from craniometaphyseal
dysplasia, a relatively common condi-
tion with which it has been confused.
Pyle-type metaphyseal dysplasia must
be distinguished and separated from
craniometaphyseal dysplasia, for prog-
nostication, since deafness, facial
paralysis and occasional impairment of
vision may result from cranial nerve
compression in the latter, whereas,
they are unusual in the former.1,2
Bone fragility and spinal malalign-
ment or scoliosis is infrequent but are

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well-documented complications.3,4
Carious and misplaced teeth,4 and
patchy sclerosis of the cranial vault
with associated moderate supraorbital
prominence and prognathism are fea-
tures that have been reported in Pyle-
type metaphyseal dysplasia.3
Genetic considerations are also rel-
evant, as craniometaphyseal dysplasia
is transmitted as an autosomal domi-
nant, whereas, inheritance in Pyle-type
metaphyseal dysplasia is autosomal
recessive.5
In Pyle-type metaphyseal dysplasia
there are gross abnormalities of the
tubular bone modeling, with associated
mild sclerosis of the cranium. Promi-
nent radiographic features in the long
tubular bones consist of splaying of the
metaphyses with relative constriction
of the diaphyses. The changes are most
obvious in the distal femora, where the
appearance has been likened to an
“Erlenmeyer flask.” Failure of model-
ing may also be seen in the short tubu-
lar bones, with widening of the medial
ends of the clavicles, sternal ends of
FIGURE 5. Normal lateral view of the spine. the ribs and pubic bones.
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C A S E
CONCLUSION:
In spite of the striking radiographic
manifestations, there are a few clinical
stigmata and the condition has a
benign course.
REFERENCES
1.Gorlin RJ, Koszalka MF, Spranger J. Pyle’s dis-
ease (familial metaphyseal dysplasia. A presenta-
tion of two cases and argument for its separation
from craniometaphyseal dyslasia. J Bone Joint
Surg Am. 1970;52(2):347-354.
2. Mabille JP, Benoit JP, Castera D. Dysplasie
metaphysaire de Pyle. Ann of Radiol (Paris).
1973;16:723-730.
3.Pyle, E. A case of unusual bone development. J
Bone Joint Surg Am. 1931;13:874-876.
4.Bawkin, H, Krida, A. Familial metaphyseal dys-
plasia. American Journal of Diseases of Children.
1937;53:1521-1527.
5. Raad MS, Beighton, P. Autosomal recessive
inheritance of metaphyseal dysplasia (Pyle dis-
ease). Clin Genet. 1978;14: 251-256.
Prepared by Adejimi O. Adeniji,
MD, Divisional Chairman, Pedi-
atric Radiology, John Stroger Hos-
pital of Cook County, Chicago, IL.
July–August 2009