Cleidocranial dysostosis

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Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance ⁴.

Pathology

It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones ⁵.

Clinical features

large head, with large fontenelles with delayed closure
broad mandible
supernumerary teeth
high arched palate
neonatal distress due to thorax being narrowed and bell shaped
excessively mobile shoulders
may have genu valgum and short fingers

Radiographic features

Plain film

Skull

wormian bones
widened sutures / fontanelles
premature fusion of the coronal suture (brachycephaly)
frontal / parietal bossing
basilar invagination (atlanto axial impaction)
persistent metopic suture

Chest

hypoplasia / aplasia of lateral clavicle (absent clavicles): may have two separate hypoplastic segments ⁵
supernumerary ribs
hemivertebrae with spondylosis
small and high scapulae

Pelvis

hypoplasia of iliac bones
absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)

Limbs

-<p><strong>Cleidocranial dysostosis (CCD)</strong> is a <a title="skeletal dysplasias" href="/articles/skeletal-dysplasia">skeletal dysplasia </a>with predominant membranous bone involvement. It carries an autosomal dominant inheritance <sup>4</sup>. </p>
~~-<h4>Pathology</h4>~~
-<p>It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones <sup>5</sup>. </p>
~~-<h4><strong>Clinical features</strong></h4>~~
~~-<ul>~~
~~-<li>large head, with large fontenelles with delayed closure</li>~~
~~-<li>broad mandible</li>~~
~~-<li><a title="supernumerary teeth" href="/articles/mesiodens">supernumerary teeth</a></li>~~
~~-<li>high arched palate</li>~~
~~-<li>neonatal distress due to thorax being narrowed and bell shaped</li>~~
~~-<li>excessively mobile shoulders</li>~~
~~-<li>may have genu valgum and short fingers</li>~~
~~-</ul><h4><strong>Radiographic features</strong></h4>~~
~~-<h5>Plain film</h5>~~
~~-<h6>Skull</h6>~~
~~-<ul>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none"><a title="Wormian bones" href="/articles/wormian-bones">wormian bones</a></li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">widened sutures / fontanelles</li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">premature fusion of the coronal suture (<a title="brachycephaly" href="/articles/brachycephaly">brachycephaly</a>)</li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">frontal / <a title="parietal bossing" href="/articles/parietal-bossing">parietal bossing</a> </li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">
~~-<a title="Basilar invagination" href="/articles/basilar-invagination">basilar invagination</a> (atlanto axial impaction)</li>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none"><a title="persistent metopic suture" href="/articles/persistent-metopic-suture">persistent metopic suture</a></li>
~~-</ul><h6>Chest</h6>~~
~~-<ul>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; VERTICAL-ALIGN: baseline">hypoplasia / aplasia of lateral clavicle (<a title="Absent-clavicles" href="/cases/absent-clavicles">absent clavicles</a>): may have two separate hypoplastic segments <sup style="FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; FONT-WEIGHT: normal; TEXT-DECORATION: none">5</sup>
~~-</li>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">supranumerary ribs </li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">
~~-<a title="hemivertebrae" href="/articles/hemivertebrae">hemivertebrae</a> with spondylosis</li>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">small and high scapulae</li>
~~-</ul><h6>Pelvis</h6>~~
~~-<ul>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none"><a title="hypoplasia of iliac bones" href="/articles/hypoplasia-of-iliac-bones">hypoplasia of iliac bones</a></li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)</li>
~~-</ul><h6>Limbs</h6>~~
~~-<ul>~~
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">short / <a title="absent fibula" href="/articles/absent-fibula">absent fibula</a> </li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none">short / <a title="absent radius" href="/articles/absent-radius">absent radius</a> </li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none"><a title="coxa vara" href="/articles/coxa-vara">coxa vara</a></li>
-<li style="BACKGROUND-COLOR: transparent; LIST-STYLE-TYPE: disc; FONT-STYLE: normal; FONT-FAMILY: Arial; COLOR: rgb(0,0,0); FONT-SIZE: 11pt; VERTICAL-ALIGN: baseline; FONT-WEIGHT: normal; TEXT-DECORATION: none"><a title="hypoplasic terminal phalanges" href="/articles/hypoplasic-terminal-phalanges">hypoplasic terminal phalanges </a></li>
+<p><strong>Cleidocranial dysostosis (CCD)</strong> is a <a href="/articles/skeletal-dysplasia">skeletal dysplasia </a>with predominant membranous bone involvement. It carries an autosomal dominant inheritance <sup>4</sup>.</p><h4>Pathology</h4><p>It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones <sup>5</sup>.</p><h4><strong>Clinical features</strong></h4><ul>
+<li>large head, with large fontenelles with delayed closure</li>
+<li>broad mandible</li>
+<li><a href="/articles/mesiodens">supernumerary teeth</a></li>
+<li>high arched palate</li>
+<li>neonatal distress due to thorax being narrowed and bell shaped</li>
+<li>excessively mobile shoulders</li>
+<li>may have genu valgum and short fingers</li>
+</ul><h4><strong>Radiographic features</strong></h4><h5>Plain film</h5><h6>Skull</h6><ul>
+<li><a href="/articles/wormian-bones">wormian bones</a></li>
+<li>widened sutures / fontanelles</li>
+<li>premature fusion of the coronal suture (<a href="/articles/brachycephaly">brachycephaly</a>)</li>
+<li>frontal / <a href="/articles/parietal-bossing">parietal bossing</a>
+</li>
+<li>
+<a href="/articles/basilar-invagination">basilar invagination</a> (atlanto axial impaction)</li>
+<li><a href="/articles/persistent-metopic-suture">persistent metopic suture</a></li>
+</ul><h6>Chest</h6><ul>
+<li>hypoplasia / aplasia of lateral clavicle (<a href="/cases/absent-clavicles">absent clavicles</a>): may have two separate hypoplastic segments <sup>5</sup>
+</li>
+<li>supernumerary ribs</li>
+<li>
+<a href="/articles/hemivertebrae">hemivertebrae</a> with spondylosis</li>
+<li>small and high scapulae</li>
+</ul><h6>Pelvis</h6><ul>
+<li><a href="/articles/hypoplasia-of-iliac-bones">hypoplasia of iliac bones</a></li>
+<li>absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)</li>
+</ul><h6>Limbs</h6><ul>
+<li>short / <a href="/articles/absent-fibula">absent fibula</a>
+</li>
+<li>short / <a href="/articles/absent-radius">absent radius</a>
+</li>
+<li><a href="/articles/coxa-vara">coxa vara</a></li>
+<li><a href="/articles/hypoplasic-terminal-phalanges">hypoplastic terminal phalanges </a></li>

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