DOI:10.2214/AJR.06.0568
AJR 2007; 189:S32-S34
© American Roentgen Ray Society
AJR Teaching File: Multiple Symmetric Abnormalities in a Radionuclide Bone Scan
Ba D. Nguyen1 and
Panol C. Ram
1 Both authors: Department of Radiology, Mayo Clinic Scottsdale, 13400 E Shea
Blvd., Scottsdale, AZ 85259.
Received April 26, 2006;
accepted after revision August 28, 2206.
Address correspondence to B. D. Nguyen
(nguyen.ba{at}mayo.edu).
Keywords: cleidocranial dysostosis • cleidocranial dysplasia • Marie-Sainton syndrome • metastatic disease • scintigraphy
Case History
A 41-year-old woman underwent clinical and imaging workup for metastatic
medullary thyroid carcinoma.
Radiologic Description
The 99m TC methylene diphosphonate whole-body bone scintigraphy
shows no evidence of osseous metastatic disease from medullary thyroid cancer.
However, it shows multiple skeletal abnormalities: agenesis of the clavicles,
frontal bone bossing, and hypoplastic iliac bones
(Fig. 1A). A posteroanterior
chest radiograph confirms the absence of clavicles
(Fig. 1B). A lateral CT of head
and neck shows frontal bossing, wormian bones, and extensive dental works
related to numerous dental abnormalities
(Fig. 1C). An axial CT image of
the base of the skull shows wormian bones
(Fig. 1D).
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Fig. 1A —41-year-old woman with imaging workup for metastatic
medullary thyroid carcinoma. Total-body 99mTc methylene
diphosphonate bone scintigraphy shows absent clavicles (straight
arrows), frontal bossing (arrowheads), and hypoplastic iliac
bones (curved arrows).
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Fig. 1C —41-year-old woman with imaging workup for metastatic
medullary thyroid carcinoma. Lateral topographic CT image of head and neck
shows frontal bossing (arrowhead), wormian bones (arrows),
and extensive dental repair.
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Differential Diagnosis
The differential diagnosis of cleidocranial dysostosis (CCD) includes
pyknodysostosis, congenital pseudoarthrosis of the clavicle, Treacher Collins
syndrome or mandibulofacial dysostosis, and Yunis-Varon syndrome.
Diagnosis
Based on the scintigraphic and radiologic findings mentioned above, CCD, or
Marie-Sainton syndrome, is the best diagnosis.
Discussion
CCD, also known as Scheuthauer-Marie-Sainton or Marie-Sainton syndrome, is
a rare autosomal dominant dysplasia with an estimated incidence of 1:1,000,000
[1,
2]. Other synonyms are
osteodental dysplasia, dysostosis cleidocraniodigitalis, and dysostosis
generalisata [3]. All these
appellations are descriptive of generalized skeletal malformations involving
predominantly the skull, face, and clavicles. Skull deformities include
brachycephaly, frontal bossing, persistent wormian bones, and delayed cranial
ossification with excessively large fontanels and late suture closing. Facial
features are hypoplastic maxilla and zygoma, hypertelorism, broad nose with
depressed bridge, prognathism, and dental abnormalities. The dental disorders
consist of delayed exfoliation of primitive teeth, delayed eruption of
permanent teeth, and multiple impacted supernumerary teeth leading to
malocclusions [4]. The
clavicles are commonly underdeveloped or, rarely, absent with narrow chest and
drooping shoulders. Clavicular abnormalities allow patients to approximate
their shoulders anteriorly. Other defects include wide pubic symphysis with
delayed closure, spina bifida, syringomyelia, spondylosis, and acral, hand,
and foot deformities. CCD patients present with delayed skeletal maturation
and growth even though this dysplasia is not considered a dwarfism condition
[4]. Due to facial hypoplasia
and underdeveloped paranasal sinuses, CCD patients are prone to upper airway
respiratory disorders such as wheezing, sinusitis, chronic throat infection,
chronic nasal congestion, sleep apnea, recurrent bronchitis, and recurrent
pneumonia [4]. Midfacial
hypoplasia also results in increased risk of conduction hearing deficit and
recurrent ear infection [4].
Pelvic bone deformities may lead to an increased rate of Cesarean section
delivery in female adult CCD patients
[4]. Diverse types of
mutations, including translocations, deletions, insertions, and nonsense and
missense errors, have been reported in CCD involving a transcription factor on
chromosome 6p21 [2,
3]. This genetic factor, also
known as CBFA1 or RUNX2, is responsible for differentiation
of precursor cells into osteoblasts and chondrocyte differentiation during
endochondral bone formation
[3].
Pyknodysostosis may share similar osseous abnormalities with CCD such as
delayed closure of fontanels, wormian bones, dysplasia of clavicles, and
dental disorders. However, pyknodysostosis, a rare autosomal recessive
malformation, is characterized by features not seen in CCD: dwarfism,
micrognathia, osteosclerosis, hypoplastic or absent distal phalanges, and
presence of multiple fractures
[5]. Congenital pseudoarthrosis
of the clavicle is a rare isolated malformation of the clavicle due to
idiopathic failure of coalescence of its ossification centers. The disorder is
usually unilateral predominantly on the right side with nontender mass or
soft-tissue swelling over the involved clavicle
[6]. The bilateral version of
this disorder may mimic CCD. Treacher Collins syndrome, or mandibulofacial
dysostosis, is an autosomal disorder with variable expression involving almost
exclusively the craniofacial development. It is characterized by antimongoloid
slant of the eyes, coloboma of the lid, micrognathia, microtia, ear
deformities, hypoplastic zygomatic arches, and macrostomia
[7]. Yunis-Varon syndrome is a
rare autosomal recessive dysplasia characterized by CCD-like features of
hypoplastic facial bones with additional hypoplasia or aplasia of distal
extremities, CNS and cardiovascular malformations, and high neonatal mortality
rate [8].
Objective
The objective of this article is to present different characteristic
features of CCD on whole-body bone scintigraphy, chest radiography, and head
CT.
Conclusion
CCD is a rare autosomal dominant skeletal disorder with characteristic
radiologic and scintigraphic findings. Its predominant features include
dysplasia of the clavicles, cranium, facial bones, dental system, and pelvic
girdle. These specific malformations are helpful to differentiate CCD from
other craniofacial and clavicular dysostoses.
References
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Case History
Radiologic Description
