Abstract Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia and associated spinal abnormalities showed no previous similar reports as encountered in our patient

Ali Al Kaissi

Farid B Chehida

Ghachem

Hassan Gharbi

Hatem Safi

Jalel Chakib

Maher Ben

Nabil Nassib

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Cleido-cranial dysplasia in a Tunisian child 
 
African Journal of Biomedical Research, Vol. 8 (2005); 127 - 129 
ISSN 1119 – 5096 © Ibadan Biomedical Communications Group 
Available online at http://www.bioline.org.br/md 
 
 
Case Report 
Massive spinal–ischial dysplasia and extensive spinal 
dyssygmentation in a Tunisian child with severe form of Cleido-
cranial dysplasia 
 
Ali Al Kaissia*, Farid B Chehida**, Hatem Safi*, Maher Ben, Ghachem*, Nabil 
Nassib*, Jalel Chakib*, and Hassan Gharbi** 
 
*Service d’Orthopedie Infantile Hopital d’Enfants de Tunis 
**Centre Radiologie Ibn Zohr-Tunis 
 
Abstract 
Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). 
We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with 
marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of 
Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia and associated spinal 
abnormalities showed no previous similar reports as encountered in our patient.  
 
Key words:  
Cleido cranial, dysplasia, spinal dyssygmentation, defective ossification of the ischium, kyphoscoliosis. 
 
INTRODUCTION 
 
Cleido-cranial dysplasia is a chondrodystrophic 
dysplasia characterised by defective skull 
ossification, clavicular hypoplasia or aplasia, 
delayed ossification of the pelvis, 
pseudoepiphyses and kyphoscoliosis, it is an 
autosomal dominant condition, however, the 
condition is classically characterised by deficient 
ossification of bones formed in membrane, 
though bones are formed by endochondral 
ossification can be affected.  
 We report on a 7-year-old- female child 
manifesting the full blown and severe form of 
cleidocranial dysplasia, particularly her vicious 
kyphoscoliosis, the totally absent clavicles, and 
the remarkable defective ossification of the 
ischial rami, moreover, these malformation 
complex were remarkably demonstrated by 
means of 3-dimensional CT scan, since the 
standard radiographic examinations were not 
contributory. 
 The older female, who is normally looking 
sibling, came to our department complaining of 
bouts of pain in her pelvic bones, when 
radiographs were taken we observed important 
dysplasia of her ischial rami, and discrete 
adolescent kyphosis as well. 
 While further exploring this family we 
observed that the normally looking 43-year -old-
mother is with the same pelvic dysplastic 
process. The purpose of this result is to illustrate 
the result of similar pathogenetic mechanisms in 
the same family, however, with different 
intensities. Once the mechanism is discovered in 
one family member, a search for similar 
mechanisms in others can be rewarding.   
 
CASE REPORT AND DISCUSSION 
 
The skull shows severe degrees of imperfect 
ossification of the sutures: 
1.  The anterior & posterior fontanelle is large 
and remarkably opened.      
2.  The nasal bones are absent with marked 
deficient dentition, extends from Inferior 
nasal downward. 
3. The clavicles show total absence, bilaterally.  
4 Spinal column: marked kyphoscoliosis, 
because of massive hemivertebrae 
extending from the cervical to the lumbo-
sacral.  
5. Deficient ribs number (10 ribs bilaterally), and 
the presence of the cervical rib and 
markedly hypoplastic scapulae. 
   
       In this case study we are focusing on the 
following points for proper understanding of the 
inheritance pattern of any given skeletal 
dysplasia disorder in ascertained families, 
through; Firstly the knowledge of developmental 
patterns shared by different genetic disorders 
cautions the diagnostician and encourages a 
two-step procedure: a) provisional recognition of 
a pattern and b) more careful analysis of the 
pattern to reach a final, specific diagnosis.  
 
 
African Journal of Biomedical Research 2005 (Vol. 8) /Al Kaissi, Chehida, Safi, Maher Ben, et al 
Cleido-cranial dysplasia in a Tunisian child 
128 
128
            
                A                                                      B     C 
Plate 1 : Imaging Findings of the 7 -year-old-female-sibling: 3-Dimentinal reconstruction CT SCAN 
 
            
 
Plate 2 
3-D reconstruction CT scan of the pelvic bones: Note 
(1).The pelvic bones: show coxa vara & there is 
subluxation of the humeral heads, marked deficient 
ossification of the ischium with hypoplastic pelvic 
bones. (2).The hands show various abnormalities, the 
presence of epiphysis at both ends of the metacarpals 
& metatarsals. These are cone shaped epiphysis in 
the phalanges of the hands & feet & multiple pseudo-
epiphyses in the metatarsals. 
 
And secondly families of bone dysplasias may 
be the result of similar pathogenetic 
mechanisms, however, once the mechanism is 
discovered in one member of the family, a 
search for similar mechanisms in others may be 
rewarding. Hypoplasia of the ischia is an 
extremely rare congenital malformation, which 
has been reported as an isolated anomaly in 
very few cases. It has been known as a 
syndromic association complex in some 
congenital malformation syndromes, such as 
ischio-vertebral dysplasia, ischio-patellar 
dysplasia, and severe postaxial acrofacial 
dysostosis. 
 We encountered three family members, in 
whom defective ossification of the ischium was 
noted, the index case, which manifested the full -
blown picture of Cleido-cranial dysplasia, and 
her older female sibling and the mother,  
 The reported condition is congenital & 
familial, with autosomal dominant inheritance 
and wide variation in expressions and variable 
clinical presentations in other normally look ing 
subjects. The vast majority of reported cases of 
Cleido-cranial dysostosis are focusing on the 
congenital aplasia or hypoplasia of the clavicles, 
in our reported family we observed that the 
proband is the only child in the family with the 
most severe form of the disorder, however, older 
female sibling and her mother are complaining 
from pelvic pains and hip joints,  radiographs 
showed small capital femoral epiphyses and 
development of post-adulthood arthrosis, 
discrete adolescent kyphosis and deficient 
ossification of the ischium in these normally 
looking family subjects. 
    Ischio-vertebral dysplasia was encountered in 
this family with different grades and intensities, 
in the youngest female sibling who manifested 
the full blown picture of Cleido-cranial dysplasia, 
whereas the older female sibling and her mother 
were partially affected, however, their clavicles 
were normal and mostly the ischial rami in the 
older female child and her thoracic spines were 
affected, however, with less than what has been 
seen in the index case. 
 The genetic basis for this syndrome has been 
well reported, Brueton et al., (1992) reported 
three apparent cases with re-arrangements of 
8q22. A mother and daughter had a balanced 
t(8;10)(q22.3;p12.3) and an isolated girl had a 
dup(8 q13.3->q22.1).  
        Few reports have looked at the associated 
orthopaedic abnormalities in normal phenotype 
family subjects, in connection with the 
pathogenetic mechanism, and this in itself can 
be misleading for the treating physician, our 
 
African Journal of Biomedical Research 2005 (Vol. 8) /Al Kaissi, Chehida, Safi, Maher Ben, et al 
Cleido-cranial dysplasia in a Tunisian child 129
report emphasizes on the necessity of 
examining siblings and other family subjects, 
once the recognition of a bone dysplasia 
disorder has been established in the family. 
 Identifying the precise etiology should be of 
prime importance in dealing with any chronic 
illnesses, the intervening family members are 
variably affected, and their clinical presentations 
should not be separated in the management 
from the actual causation of their illnesses, the 
hip dysplasia of the mother and her female 
sibling is part of the syndromic association in this 
family. 
 
CONCLUSION 
Computed tomography is the investigation of 
choice to optimally demonstrate the massive 
bony abnormalities in our patient, however, 
when we applied the plain radiographs as our 
first modality, we felt that important radiological 
features are still missing, therefore, 
reconstruction was obtained and the fine details 
of this severe bony malformation complex was 
properly understood. 
  We believe that etiology is the target in any 
research potential, and every ailment and 
malformation has a causative, and the 
connection to be made between onset of any 
given malformation and other similar 
mechanisms in families with recognized 
pathogenetic features, furthermore, if the cause 
is unknown, how can relevance be determined. 
 
 
 
 
 
REFERENCES 
 
Anspach WE, Huepel RC. (1935); Familial 
cleidocranial dysostosis (cleidal dysostosis). J Dent 
Res 15:786-798. 
Bach C, Faure C, Schaeffer P et al (1966) : 
Cleidocranial dysostosis. Study  of 6 cases. 
Association with neurological manifestations.Ann 
Pediatr 13:67-77. 
Brueton LA, Reeve A, Ellis R, et al (1992): Apparent 
cleidocranial dysplasia associated with abnormalities 
of 8q22 in three individuals. Am J Med Genet 43:612-
618. 
Job JC, Nahum H, Faure C et al (1965): 
Cleidocranial dysostosis. Its polymorphism. Arch Fr 
Pediatr 22 : 669-686. 
Fitchet S.M. (1929); Cleidocranial dysostosis: 
hereditary and familial. J Bone Joint Surg 11:838-866. 
Gelb BD, Cooper E, Shevell M, Desnick RJ. (1995); 
Genetic mapping of the cleidocranial dysplasia (CCD) 
locus on chromosome band 6p21 to include a 
microdeletion. Am J Med Genet 58:200-205. 
Gupta SK, Sharma OP, Malhotra S, Gupta S. 
(1992): Cleido-cranial dysostosis - skeletal 
abnormalities. Australas Radiol 36:238-242. 
Jensen BL, Kreiborg S. (1993): Development of the 
skull in infants with cleidocranial dysplasia. J Cranio 
Gen Dev Bio 1993;13:89 -97. 
Ramesar RS, Greenberg J, Martin R, Goliath R, 
Bardien S, Mundlos S, Beighton P (1996): Mapping 
of the gene for cleidocranial dysplasia in the historical 
Cape Town (Arnold) kindred and evidence for locus 
homogeneity. J Med Genet 1996;33:511-514. 
Debousset J. haddad F, Zeller R, et al. (1994), La 
dysplasie ischio-vertebrale(un dangereux syndrome 
pour la moelle epiniere) :ischio-vertebral dysplasia. 
Rev Chir Orthop 80: 610-619. 
Kozlowski K, Nelson J. (1995) Small patella 
syndrome. Am J Med Genet 57: 558-561. 
 
                                                 
a Corresponding author: Ali Al Kaissi, Fax + 216 71 564 662; Email address:allawi.rem@planet.tn 
 


Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido- cranial dysplasia

Kyphoscoliosis is a complication of some bone dysplasias, including
Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia
secondary to severe spinal dyssygmentation associated with marked
defective ossification of the ischium, detected in a Tunisian female
child with a severe form of Cleido-cranial dysplasia. Literature review
on Cleido cranial dysplasia and associated spinal abnormalities showed
no previous similar reports as encountered in our patient

Farid B. Chehida

M. B. Ghachem

University of Toronto Research Repository

Massive spinal–ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleidocranial dysplasia

http://citeseerx.ist.psu.edu/viewdoc/download;jsessionid=15EC8B5B73CDBD6DF9FE23A0357B29B1?doi=10.1.1.1076.8561&rep=rep1&type=pdf

Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido- cranial dysplasia

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