Congenital Contractural

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					Refer to: Hale MS, Rodman RD, Lipshin J: Congenital contrac-      be present at birth. These vary in severity; those
          tural arachnodactyly. West J Med 120:74-76, Jan 1974
                                                                  of lesser severity have been noted to improve
                                                                  spontaneously in early childhood. Finger proximal
                                                                  interphalangeal and metacarpophalangeal joint
Congenital Contractural                                           contractures tend to persist but not to a disabling
                                                                  degree. These finger flexion contractures are not
Arachnodactyly                                                    an invariable part of CCA syndrome. When present
                                                                  they are highly visible. Even when absent, the
      MEREDITH S. HALE, MD                                        fingers generally assume a flexed and ulnar devi-
      HOWARD D. RODMAN, MD                                        ated stance. One CCA patient died at two and a
      JACK LIPSHIN, MD                                            half years of age. Death was attributed to suffo-
                                                                  cation from laryngeal obstruction.2 The larynx at
      Panorama City, California                                   autopsy had a narrowed inlet, increased sagittal
                                                                  diameter and prominent epiglottic curvature.
IN 1971 R. K. Beals and F. Hecht, University of                      Separating CCA patients from those with over-
Oregon Medical School, described a syndrome                       lapping features noted in Marfan's syndrome,
which they named congenital contractural arach-                   homocystinuria, arthrogryposis, osteogenesis im-
nodactyly (CCA). They reported two affected kin-                  perfecta, Achard's syndrome (brachycephalgia,
dreds observed by them, reviewed similar case                     retroagnathia, gracile digits, thin limbs, no con-
reports from a number of countries and distilled                  tractures or eye defects) and a syndrome reported
from these reports 12 kindreds with findings com-                 by Mirhosseini (arachnodactyly, cataracts and
mon to CCA.1 One of these 12 kindreds was re-                     mental retardation) is important for several rea-
ported by Epstein and several collaborators in                    sons. These include absence of mental retardation
1968 as having "hereditary dysplasia of bone                      and ocular defects in CCA patients. Cardiac abnor-
with kyphoscoliosis, contractures and abnormally                  malities are infrequent and those described to date
shaped ears."2 He outlined reasons why this                       are of no major significance. Finger flexion con-
should be considered a separate genetic entity.                   tractures, when present, do not progress and are
McKusick recognized this assertion by including                   not disabling. Contractures of major joints such
Epstein's kindred in the third edition of his cata-               as the knee tend to improve spontaneously during
log "Mendelian Inheritance in Man," item num-                     childhood development. This observation should
ber 14950.                                                        not in any way delay corrective casting, a treat-
   Outstanding CCA features include congenital                    ment that, as is noted in the following case report,
joint contractures, arachnodactyly-long, thin digits,             is effective. Awareness of the probability that
dolichostenomelia-long, thin limbs, crumpled ear                  severe scoliosis may develop should lead to early
antihelices, flat ear helices, tibial bowing, meta-               recognition and aggressive treatment of this de-
tarsus adductus, gracile incurving toes and fingers,              formity.',3,4
and kyphoscoliosis. About half of the children and                   Shortly after the original CCA report was pub-
all adults with CCA had scoliosis. The early de-                  lished (1971),' one of us (H.D.R.) evaluated an
velopment of progressive severe scoliosis is an                   infant girl, then 11 months of age, referred for a
important clinical feature of CCA and one that de-                crouched walking pattern and some stigmata of
mands timely recognition in order that early cor-                 Marfan's syndrome. Notably lacking were ocular
rective treatment may be started before disabling                 and cardiac defects. A survey of this infant's
deformity occurs.                                                 musculo-skeletal abnormalities and her external
   CCA transmission is as an autosomal dominant                   ear appearance suggested that she might fall in the
trait; the disorder probably originates as a new                  CCA classification. Subsequent clinical observa-
autosomal dominant mutation. Affected children                    tions, x-ray and laboratory studies (both inclu-
are frequently, but not invariably, born by breech                sive and exclusive) confirmed the original CCA
delivery. Multiple major joint contractures may                   diagnostic impression.
  From the Departments of Physiatry (Dr. Hale); Orthopedics       Report of a Case
(Dr. Rodman); and Pediatrics (Dr. Lipshin); Kaiser Permanente
Medical Center, Panorama City.                                      The patient was a baby girl born 15 June 1970
   Submitted February 9, 1973.
   Reprint requests to: M. S. Hale, MD, Department of Physiatry   -no siblings, product of a normal full-term preg-
Southern California Permanente Medical Group, 13652 Cantara
Street, Panorama City, CA 91402.                                  nancy and vaginal delivery, birth weight 8 pounds,

      74      JANUARY 1974 * 120 * 1
TABLE l.-CCA Features            Compared with Conditions Observed in Patient Reported and Certain Related Syndromes
              Features                            Patient            CCA                Marfan's         Achard's    Imperfecta
Oval head ........................     +                         +                  dolichocephaly brachycephaly -
Slightly deep set eyes . ...............
                                       +                         reported           -               -               -
Lower teeth small widely spaced ...... +                         +
High arched palate .................   +                         +
Retroagnathia .............            +                         +                  prognathia     reported
Flat ear helix ......        ....... +                           +                   reported
Crumpled antihelix .......... ... +                              +                   reported
Knee flexion contracture ............. +                         +congenital or      later childhood -
                                                                 early development with patellar
Gracile limbs ............. ....                  +               +                  +               +
Arachnodactyly .................                  +               +                  +               +
Tibial bowing (anterior) ..............           +              +                   +
Incurving toes, fingers ...............           +              +                   +
Finger flexion contracture ............           Flexion         + (Uusual but not -
                                                  stance         invariable finding)
Metatarsus adductus ..                +               ..         +
Hypermobile ankle extension .........        +                   +
Thumb adduction stance ............. +                           reported          reported
Osteoporosis (x-ray) ................ + slight                   + slight           -               -               + (constant)
Scoliosis ..                  .. +                                + (Developmental, +               +               reported
                                                                 not congenital)
  (+) = characteristic finding      (-) = indicates not a characteristic fnding

4 ounces, length 21 inches, uneventful perinatal                        were found. Results of urine amino acid chroma-
and neonatal period-was noted by her mother to                          tography and mucopolysaccharide studies were
have "rumpled" ears, thin limbs, long thin fingers                      normal. Blood cell count, routine urinalysis and
and toes. At age nine months she crawled freely                         creatine phosphokinase reports were normal. X-
but walked in a half-crouched position. Ortho-                          ray films of the hands, wrists and tibia at age 16
pedic evaluation at 11 months of age confirmed                          months showed a recognizable degree of osteo-
a slightly crouched stance when walking and                             porosis, anterior bowing of the tibia and digital
standing, tight hamstring muscles, tibial bowing,                       arachnodactyly. Ophthalmologic evaluation was
metatarsus adductus, arachnodactyly, hypoplastic                        within normal limits.
calf muscles and hypermobile ankle and wrist
joints. Hip, spine and foot and ankle x-ray studies                      Discussion
showed spina-bifida occulta at the fifth lumbar                             The pertinent physical, laboratory and x-ray
vertebra and confirmed a mild metatarsus adduc-                          findings at age 34 months are summarized in
tus foot abnormality.                                                    Table 1. These are compared in the same table
   At age 14 months repeat orthopedic evaluation                         with characteristic findings in CCA, Marfan's syn-
showed "typical calcaneus gait . . . long fingers                        drome, Achard's syndrome and osteogenesis im-
and toes . . . mild metatarsus varus . . . 10-15'                        perfecta.4 Homocystinuria, a disease recently dis-
knee flexion contracture . . . normal hip motion,                        tinguished from Marfan's syndrome, has some
anterior bowing of both tibia ... no x-ray abnor-                        features in common with CCA but notably lacks
mality of knee or ankle growth plates." Success-                         congenital joint contractures and is easily distin-
ful corrective casting for forefoot adduction and                        guished by its characteristic urinary abnormality
knee flexion contracture was started.                                    as well as its recessive mode of inheritance.3 Fig-
   The parents were examined. They had no mus-                           ure 1 is photographs of the patient showing some
culo-skeletal, ocular or ear abnormalities. The in-                      of the salient clinical features of CCA. She was 30
fant's grandparents and great grandparents as well                       months old when this report was first prepared.
as other close kin had no peculiarities in habitus                       At that time she had no clinical or radiographically
insofar as was known by the parents.                                     recognizable scoliosis. Four months later she
   Electromyographic examination of the patient's                        showed a minimal flexible le'voscoliosis of the
lower extremities was done at age 15 months. No                          lower dorsal spine. She walked with a normal
lower motor neuron or myopathic abnormalities                            heel-toe walking gait and could run easily on
                                                                           THE WESTERN JOURNAL OF MEDICINE              75

                                                            Figure 1.-(A) Neonatal photograph-prominent
                                                            anterior tibialbowing, CCA ear deformity, retro-
                                                            agnathia. (B) Long, thin incurving toes (age 34
                                                            months). (C) Long, thin fingers in characteristic
                                                            flexion stance, slight ulnar deviation; thumb in
                                                            usual resting adducted position. (D) Dorsal view
                                                            of hand and fingers showing arachnodactyly.
                                                            (E) Characteristic CCA ear, showing flattening of
                                                            helix, crumpled appearance of antihelix with par-
                                                            tial obliteration of concha.

toe-tips. Early hypoplastic calf muscle appearance   drome named by Beals and Hecht in 1971. Key
had diminished. Her height remains in the 97 +       physical features and differential diagnostic con-
percentile (a reported CCA feature). Mental de-      siderations have been concisely outlined in Table
velopment is normal. The retroagnathia so promi-     1. The clinical course of CCA when compared with
nent in her neonatal photograph (Figure 1) has       allied syndromes with overlapping characteristics,
disappeared. Slight metatarsus adductus has re-      includes certain favorable characteristics which
mained after corrective casting, but corrective      alone make recognition of this newly described
shoes are not considered necessary. The precast-     syndrome important. Anticipation of a severe de-
ing striking excessive ankle dorsiflexion (a re-     velopmental scoliosis is equally important so that
ported but not constant CCA feature) now reflects    early aggressive treatment can be instituted to
only 30 to 350 of passive ankle dorsiflexion.        preclude unnecessary scoliotic deformity.
Other CCA features found in this patient are. out-
lined in Table 1.                                       1. Beals RK, Hecht F: Congenital Contractural Arachnodactyly.
                                                     J Bone Jnt Surg 53-A:987-993, 1971
                                                        2. Epstein CJ, Graham CB, Hodgkin WE, et al: Hereditary
Summary                                              dysplasia of bone with kyphoscoliosis, contractures, and abnormally
                                                     shaped ears. J Pediatrics 73:379-386, 1968
   A case report has been presented which the          3. Beals RK: Homocystinuria. J Bone Jnt Surg 51-A:1564-1572,
authors believe to be that of a child with congen-     4. Hecht F, Beals RK: "New" syndrome of congenital contrac-
ital contractural arachnodactyly-a "new" syn-        tural arachnodactyly originally described by Marfan in 1896. Pedi-
                                                     atrics 49:574-579, 1972

     76    JANUARY 1974 * 120 * 1

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