A case of cleidocranial dysostosis

A four and half year old girl was admitted to General Hospital, Kalutara for investigation of short stature. Her head circumference was 51 cm (50 th centile), height 90 cm (<3 rd centile), weight 16 kg (between 10 th and 50 th centiles). She had a brachycephalic head with open anterior fontanelle. Both clavicles were absent so that she could move her shoulders across the chest. There was no chest deformity. Her dentition was norma l .

X-ray skull (figures 1 and 2) showed defective mineralization of the skull bones and widely open fontanelles.There was frontal and parietal bossing with multiple wormian bones.X-ray chest (figure 3) revealed absent clavicles, narrow thorax and short ribs which were obliquely directed downward.Physical features and x-ray findings confirmed the diagnosis of cleidocranial dysostosis.

Discussion
Cleidocranial dysostosis covers a wide range of phenotype variability and deformities are so unobtrusive that the sufferer may not be aware of having the condition 2 .It affects more of the skeleton than the name would imply 3 .It can be suspected clinically even at birth and confirmed by radiological investigations 3 .
Frequently seen abnormalities are short stature, brachycephaly with frontal, parietal, occipital bossing; late closure of fontanelles and mineralization of sutures; incompletely developed accessory sinuses; wormian bones; midfacial hypoplasia with high arched palate; hypoplastic clavicles with small thorax due to short and oblique ribs; asymmetric length of fingers with tapering of distal phalanges; narrow pelvis with wide symphysis pubis; broad femoral head with coxa vara 1,2,3 .These patients have normal intelligence quotient (IQ) and normal life span 1 .Dental problems, conductive deafness, respiratory distress in early infancy, cephalo-pelvic disproportion necessitating caesarean section are the problems encountered.Although no treatment is available for underlying disorder, multidisciplinary approach for above problems and genetic counselling are of prime importance 3 .Cleidocranial dysostosis is characterized by varying degree of hypoplasia of membranous bone and to a lesser extent of endochondral bone and dentition 1,2 .It is mainly inherited as autosomal dominant 1 .One third are fresh mutations 1 .

Case report
A four and half year old girl was admitted to General Hospital, Kalutara for investigation of short stature.Her head circumference was 51 cm (50 th centile), height 90 cm (<3 rd centile), weight 16 kg (between 10 th and 50 th centiles).She had a brachycephalic head with open anterior fontanelle.Both clavicles were absent so that she could move her shoulders across the chest.There was no chest deformity.Her dentition was norma l .X-ray skull (figures 1 and 2) showed defective mineralization of the skull bones and widely open fontanelles.There was frontal and parietal bossing with multiple wormian bones.X-ray chest (figure 3) revealed absent clavicles, narrow thorax and short ribs which were obliquely directed downward.Physical features and x-ray findings confirmed the diagnosis of cleidocranial dysostosis.

Discussion
Cleidocranial dysostosis covers a wide range of phenotype variability and deformities are so unobtrusive that the sufferer may not be aware of having the condition 2 .It affects more of the skeleton than the name would imply 3 .It can be suspected clinically even at birth and confirmed by radiological investigations 3 .
Frequently seen abnormalities are short stature, brachycephaly with frontal, parietal, occipital bossing; late closure of fontanelles and mineralization of sutures; incompletely developed accessory sinuses; wormian bones; midfacial hypoplasia with high arched palate; hypoplastic clavicles with small thorax due to short and oblique ribs; asymmetric length of fingers with tapering of distal phalanges; narrow pelvis with wide symphysis pubis; broad femoral head with coxa vara 1,2,3 .These patients have normal intelligence quotient (IQ) and normal life span 1 .Dental problems, conductive deafness, respiratory distress in early infancy, cephalo-pelvic disproportion necessitating caesarean section are the problems encountered.Although no treatment is available for underlying disorder, multidisciplinary approach for above problems and genetic counselling are of prime importance 3 .