Table 1

Clinical and radiological features of cleidocranial dysplasia

BrachycephalyMultiple wormian bones
Frontal and parietal bossingSegmental calvarial thickening
Open sutures and fontanellelesUnossified sutures and patent fontanelles
Delayed closure of fontanellelesDysplastic changes in the basiocciput
Relative prognathismHypoplasia of maxilla
Soft skull in infancyDelayed mineralisation
Depressed nasal bridgeCalcification of nasal bone delayed or missing
HypertelorismHypoplastic sinuses (paranasal, frontal, mastoid)
Thorax and shoulders
Ability to bring shoulders togetherHypoplastic, aplastic, or discontinuous clavicles
Narrow, sloping shouldersCone shaped thorax
Respiratory distress at early ageCervical ribs, missing ribs
Increased mobilityHypoplastic scapulae
Pelvis and hips
Caesarean sectionDelayed ossification of pubic bone
Hypoplasia of iliac wings
Widening of sacroiliac joints
Large femoral neck, large epiphyses
ScoliosisHemivertebrae, posterior wedging
KyphosisSpondylolysis and spondylolisthesis
Spina bifida occulta
BrachydactylyShort middle phalanges and metacarpals/tarsals III–V
Tapering of fingersHypoplastic distal phalanges
Nail dysplasia/hypoplasiaAccessory epiphyses especially of 2nd metacarpal
Short, broad thumbsLong 2nd metacarpal
Clinodactyly of 5th fingerCone shaped epiphyses
Normal deciduous dentition
Supernumerary teethImpacted, supernumerary teeth
Delayed eruption
Crowding, malocclusion