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                                                                     Journal of Medical Genetics, 1980, 17, 41-43


Sex-influenced expression of Madelung's deformity
in a family with dyschondrosteosis
JACK R LICHTENSTEIN, MURALI SUNDARAM, AND ROBERT BURDGE
From the Departments of Medicine, Radiology, and Orthopedics, St Louis University Medical School,
St Louis, Missouri 63104, USA


SUMMARY     Dyschondrosteosis is a mesomelic form of short stature which occurs in conjunction
with a characteristic wrist deformity, Madelung's deformity. A family with dyschondrosteosis had
an affected father and two daughters. The affected females had dyschondrosteosis and Madelung's
deformity, while the affected males had dyschondrosteosis, but no Madelung's deformity. All
affected members had arthralgias. The occurrence of male to male transmission confirms an auto-
somal dominant inheritance pattern for this disorder.

Dyschondrosteosis is a skeletal dysplasia consisting
of Madelung's deformity and mesomelic dwarfism,                       I
                                                                                   1
with little or no involvement of the vertebrae.'
Previous reports have noted a 4:1 female pre-
dominance and that females were more severely
affected than males. Since no documented cases of
male to male transmission have been observed, this
                                                                      I    ;7i>7i                 4;
has been classified as having either an autosomal
dominant inheritance or an X-linked dominant
                                                                                j1
                                                                                 C  Short limbed.
                                                                                    short stature
inheritance. Few families have been ascertained in the                      E    C) Madelung's deformity
United States.2
   In this report we present a family with dyschon-
drosteosis inherited in an autosomal dominant                 FIG 1 Pedigree of the K family.
pattern, but in which Madelung's deformity was
present only in the affected female members. All of           not extend at either wrist past 450. He had stiffness
the affected members had arthralgias in involved              in all joints. There was crepitance and pain on
joints indicating that this disease, like many other          motion of his left knee. He had prominence of the
skeletal dysplasias, predisposes to degenerative joint
disease.                                                      medial tibial tuberosity. The remainder of the
                                                              examination was normal.
Case reports
                                                              KK((L2), the mother aged 35, had been in good health
The pedigree of the K family is presented in fig 1.           all her life. She was 156 cm tall, but was normally
                                                              proportioned and physical examination was normal.
DK (I.1), aged 40, had been in good health through-
out his life, but had always noted an inability to            AK (IIl), the eldest sister aged 22, had been noted
extend his wrists and tightness in his hands. He had          since birth to have deformed wrists. She was always
been told he had Osgood-Schlatter disease as a child          short but otherwise in good health. She had been
and had a 10-year history of arthralgia in his left           diagnosed as having Osgood-Schlatter disease as a
knee. He was a physical education teacher and was             child. On physical examination, she was 147 cm tall,
able to participate in most sports.                           has mesomelia, and Madelung's deformity in both
  On physical examination, his height was 167 cm.             wrists, with the left wrist more severely involved than
He had mesomelia of the arms and legs and could               the right (fig 2a). She had prominent medial tibial
Received for publication 17 January 1979                      tuberosities.
                                                         41
       Downloaded from jmg.bmj.com on February 25, 2012 - Published by group.bmj.com




42                                                    Jack R Lichtenstein, Murali Sundaram, and Robert Burdge




fI

FIG 2 The left wrists from (a) II. and (c) II.4, sisters, who have dyschondrosteosis and Madelung's deformity, and
(b) II.2, brother, who has dyschondrosteosis but no Madelung's deformity.

HK(II.2), the eldest brother aged 20, had always been        and mesomelic dwarfism. Examination was other-
small, but otherwise in good health. He had had low          wise normal.
back pain for several years. On physical examination            The family history revealed no other affected
his height was 160 cm and he had mesomelia, but              members. The father had been adopted and was
did not have Madelung's deformity (fig 2b).                  unaware of other members of his family. There was
                                                             no evidence for ocular, auditory, or dermatological
CK (I1.3), aged 19, was an unaffected brother who            difficulties in any of the affected members.
was in good health.
                                                             X-RAYS
GK (I.4), the proband, a 12-year-old female, was             X-rays of 11.1 and 11.4, the affected sisters, showed
ascertained because of limitation of ability to do           the following characteristics of Madelung's deformity
certain exercises such as push-ups and wrist pain.           (fig 3).3 4
She had otherwise been in good health except for
multiple dental extractions because of crowding.               (1) A shortened radius in relation to the ulna.
On physical examination her height was 130 cm.                 (2) Dorsal subluxation of the ulna.
She had Madelung's deformity bilaterally (fig 2c)              (3) Triangularisation of the distal radial epiphysis.




U
iI




FIG 3 (a) and (b) x-rays of the forearms of II. and II.4 showing Madelung's deformity, (c) x-ray of the forearm of
II.2 showing absence ofMadelung's deformity.
                       Downloaded from jmg.bmj.com on February 25, 2012 - Published by group.bmj.com




Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis                                43
   (4) An ulnar and ventral slant of the radial articu-     affected males (11.2) had more severe mesomelic
       lar surface.                                         dwarfism than either of the affected females, but did
   (5) Triangularisation of the carpal bones.               not have Madelung's deformity. His father (1.1) had
   The affected sisters also had deformed medial            mild mesomelia without Madelung's deformity.
tibial plateaux with exostosis at the margin. The two          In contrast, both of the affected female members
affected males with mesomelic short stature did not         had prominent Madelung's deformity as well as
have radiographic evidence of Madelung's defor-             mesomelia. Since Madelung's deformity is a con-
mity. 1.1 had typical changes of osteoarthritis of          genital anomaly, this suggests that its development
both knees. X-rays of the mother (1.2) were normal.         is influenced by in utero sex hormones or by X
                                                            chromosomal genes.
Discussion                                                     A second interesting feature is the prevalence of
                                                            significant arthralgias in affected family members;
Dyschondrosteosis is a rare skeletal disease charac-        two members had been diagnosed as having Osgood-
terised by mesomelic dwarfism and Madelung's                Schlatter disease. All of the affected members
deformity. Twelve criteria have been detailed               complained of wrist pain, and one had significant
for diagnosing Madelung's deformity, with the               low back pain. Dyschondrosteosis should be included
primary criteria being foreshortening of the radius,        among the group of skeletal dysplasias which cause
lucency of the distal radial epiphysis, triangulation of    premature osteoarthritis.
the carpal bones, and posterolateral displacement of
the radial sty]us.1 3 Exostoses have also been noted
on occasion. Most of the 12 criteria are radiographic; References
however, the anomaly can be identified clinically by       Langer LO Jr. Dyschondrosteosis, a heritable bone
the posterior displacement of the distal ulna and          dysplasia with characteristic roentgengraphic features.
limitation of flexion and extension at the wrist.          AJR 1965;95:178-88.
  In this family mesomelic dwarfism was inherited        2 Herdiman RC, Langer LO, Good RA. Dyschondrosteosis.
by autosomal dominant transmission. The trans-             J Pediatr 1966;68:432-41.
                                                         3 Dannenberg M, Anton JI, Spiegel MB. Madelung's
mission from father to son indicates definite auto-        deformity. Consideration of its roentgenologic diagnostic
somal dominant inheritance. In addition, the two           criteria. AJR 1939;42:671-6.
affected females had Madelung's deformity, while         4 Spranger JW, Langer LO, Weidemann HK. In: Bone
the two affected males did not. A previous report          dysplasias. An atlas of constitutional disorders of skeletal
                                                           development. Philadelphia: WB Saunders, 1974: 220-1.
has noted a family in which an affected male member
had involved mesomelia without Madelung's
deformity, while two females had both Madelung's Requests for reprints to Professor J R Lichtenstein,
deformity and mesomelic dwarfism.2 They suggested Department of Internal Medicine, School of
that this disorder has less severe manifestations in Medicine, St Louis University Medical Center,
males than in females. In our family, one of the 1402 S Grand Blvd, St Louis, Missouri 63104, USA.
      Downloaded from jmg.bmj.com on February 25, 2012 - Published by group.bmj.com




                                  Sex-influenced expression of
                                  Madelung's deformity in a family
                                  of dyschondrosteosis.
                                  J R Lichtenstein, M Sundaram and R Burdge

                                  J Med Genet 1980 17: 41-43
                                  doi: 10.1136/jmg.17.1.41


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