PEDBASE.org - The Pediatric Database - Detailed information of CLEIDOCRANIAL DYSOSTOSIS

CLEIDOCRANIAL DYSOSTOSIS

DEFINITION:

A disorder characterized by generalized dysplasia of osseous and dental tissue commonly resulting in defects in the skull, clavicles, and teeth.

EPIDEMIOLOGY:

incidence: over 500 cases reported worldwide
age of onset:
- can be detected at birth
risk factors:
- familial - autosomal dominant with a wide variability in expression
- (1/3 of cases are new mutations)
  - chrom.#: 6p21
  - gene: ?
- (also a rare autosomal recessive form)
- M = F

PATHOGENESIS:

1. Genetic Defect

genetic defect -> a generalized abnormal formation (dysplasia) of bony (osseous) and dental tissue

CLINICAL FEATURES:

1. Craniofacial Features

brachycephaly
failure or delayed closing of the fontanelles and sutures
bossing of the frontal, parietal, and/or occipital areas
high-arched palate +/- cleft
midfacial hypoplasia with low nasal bridge
hypertelorism
mandibular prognathism

2. Dental Features

maleruption, absent or delayed eruption of deciduous and permanent teeth
supernumerary dentition (usually in the premolar area)
retention cysts
enhanced caries
abnormally retained primary teeth
enamal hypoplasia
variable size and shape of erupted teeth

3. Skeletal Manifestations

1. Clavicle and Chest

unilateral or bilateral, partial or complete aplasia of the clavicles
small thorax with short oblique ribs and muscle defects
close approximation of the shoulders over the chest

2. Hands

asymmetric length and shape of fingers

3. Others

cervical ribs
coxa vara or valga
genu valgum
kyphosis
narrow pelvis
short stature (mild to moderate)
scoliosis

INVESTIGATIONS:

1. X-Ray Studies

1. Skull

worian bones
calvarial thickening
late mineralization of the sutures
small sphenoid bones
accessory sinuses and mastoids late or hypoplastic in developing
nonunion of mandibular symphysis

2. Others

vertebral malformations
small scapulae
delayed ossification of the pubic bone
wide symphysis pubis
flat acetabula
hypoplasia of the iliac wings
broad femoral head with short femoral neck
slow rate of carpal ossification
metacarpal pseudoepiphyses
osteosclerosis

MANAGEMENT:

1. Supportive

no treatment for underlying disorder
multidisciplinary approach:
- Paediatrics, Dentistry
genetic counselling

2. Prognosis

normal life span
normal mentation

ADDITIONAL REFERENCES:

1. Smith's Recognizable Patterns of Human Malformation, 5th Edition; (1997); p. 408-409. 2. Color Atlas of Congenital Malformation Syndromes; (1996); p. 129-130.

Pediatric Database - CLEIDOCRANIAL DYSOSTOSIS

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