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Year : 2004  |  Volume : 14  |  Issue : 2  |  Page : 175-176
Scheuthauer-Marie-Sainton syndrome - a rare entity imaging findings


Department of Radiodiagnosis and Department of Medicine, R.N.T. Medical College, Udaipur-313001, Rajasthan, India

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Keywords: Skeletal dysplasia, Scheuthauer-Marie-Sainton Syndrome

How to cite this article:
Verma S K, Jain P, Sharma N C. Scheuthauer-Marie-Sainton syndrome - a rare entity imaging findings. Indian J Radiol Imaging 2004;14:175-6

How to cite this URL:
Verma S K, Jain P, Sharma N C. Scheuthauer-Marie-Sainton syndrome - a rare entity imaging findings. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Sep 21];14:175-6. Available from: http://www.ijri.org/text.asp?2004/14/2/175/30284

   Introduction Top


Scheuthauer- Marie-Sainton syndrome More Details is commonly known as cleidocranial dysplasia (CCD) which is an autosomal dominant skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene [1].It is characterized by macrocephaly with persistant open sutures, absent or hypoplastic clavicles, dental anomalies and delayed ossification of pubic bones[2].

We report imaging findings in a patient with CCD. However, a familial occurrence could not be documented in this case.


   Case report Top


Ten year old girl presented with tubercular cervical lymphadenopathy on left side with healed scars on right side. On examination she was found to have height of 120cm and weight 19 Kg. She had macrocephaly with head circumference of 52.5 cm. biparietal diameter of 23 cm. and unfused anterior fontanelle. The face demonstrated hypertelorism. Thorax was funnel shaped and the most striking feature was abnormal hypermobility of shoulders, permitting the shoulders to come together in front of the chest.

Radiological examination regarding osseous malformations was carried out. Radiograph skull A.P. view [Figure - 1] showed widened biparietal diameter with superior flattening leading to "Tam O Shanter" skull. Multiple wormian bones were seen in lambdoid suture with persistant anterior fontanalle. Lateral view of skull [Figure - 2] showed shortening of cranial base anteriorly; in the posterior region, the dimensions were smaller due to a significantly shortened clivus. There was frontal bossing and downward flexion of lower occipital squamae. The physiological mandibular angle was replaced by a rounded outer contour of the mandible, referred to as "banana shaped". Wormian bones were marked in the lambdoid suture. Nasal bones were missing and supernumerary teeth were present.

Radiograph chest PA view [Figure - 3] showed narrowing of thorax and ribs which were obliquely directed downwards. Clavicles show hypoplasia particularly in lateral one third on left side and middle part on right side. Radiograph spines AP view showed hypoplastic 12th ribs on both sides. There was spina bifida occulta of 5th lumbar vertebrae. Radiograph pelvis AP view [Figure - 4] exhibited a narrow pelvis with hypoplastic iliac wings, disturbed ossification of pubic and ischial bones with delayed closure of symphysis.


   Discussion Top


Cleidocranial Dysplasia (Scheuthauer-Marie-Sainton Syndrome) is a rare autosomal dominant disease with a wide range of variability[2],[3]. The phenotype is characterized by general dysplastic bone formation manifested in typical malformations in skull, pelvis and thoracic region. Clinical signs are large, broad and short cranium with frontal and parietal bossing and a supra glabellar depression, persistence of fontanelles and sutures for years or for life, wormian bones, hypertelorism, hypoplastic midface, shortened skull base, basilar kyphosis, deep ear insertions leading to hearing loss, broad and depressed nasal bridge, delay in dentitions and supernumerary teeth. There is narrowing of upper thorax with absent or hypoplastic clavicles, scapular deformities and hypermobility of shoulders, scoliosis and vertebral anomalies. Pelvis shows narrowing, delayed symphysis closure and disturbance in the ossification of pubic and ischial bone. There may be coxa vara and coxa valga. Other osseous malformations that are observed are genu valgus, shortened radii, carpal and tarsal malformations and onychodystrophy [4]. Rarely few patients have been reported with recurrent fractures and osteoporosis [1].

Roentgenographic examination reveals the widely patent anterior fontanel and sutures with wormian bones in cranium. The clavicles typically are reduced to single or double fragments on each side with middle part being deficient. Frequently the changes are asymmetric. Marked delay in ossification of pelvic bones especially pubic and ischial bones is regularly observed. Femoral necks may show severe coxa vara and irregular mineralization of metaphyses. Spina bifida occulta is observed in the cervical and upper thoracic levels. Hands and feet demonstrate various anomalies including shortening and broadening of carpal, metacarpal, tarsal, metatarsal bones. There is hypoplasia of distal phalanges with massive epiphyses (marked in thumb) and shortenening and premature epiphyseal closure of middle phalanges[5].

Mutations in the core-binding factor alpha-1(CBFA 1) gene (OMIM 600211), located on chromosome 6p21, have been shown to be the cause of cleidocranial dysplasia[6].

Life expectancy is normal. Complications may arise during delivery in cases with narrow pelvis. Prompt dental and orthodontic care may be needed.

 
   References Top

1.Unger S., Mornet E., Mundlos S., Blaser S., Cole DE. Severe cleidocranial dysplasia can mimic hypophosphatasia. Euro. J. Paed. 2002; 161: 623-626.  Back to cited text no. 1    
2.Kreiborg S., Jensen BL, Larsen P, Schleidt DT, Darvann T. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. J. Craniofac Genet Dev Biol 1999; 19: 75-79.  Back to cited text no. 2    
3.Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14:163-176.  Back to cited text no. 3  [PUBMED]  
4.Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am. J. Med. Genet. 2001; 104: 1-6.  Back to cited text no. 4    
5.Golan I, Baumert U., Held P., Feuerbach S., Mubig D. Radiological findings and molecular genetic confirmation of cleidocranial dysplasia Clin. Radiol 2001; 56: 525-529.  Back to cited text no. 5    
6.Otto F., Thornell AP, Crompton T, et al. CBFA 1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development Cell 997; 89: 765-771.   Back to cited text no. 6    

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Correspondence Address:
S K Verma
28, Shivaji Nagar, Udaipur 313 001
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]

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[Pubmed]



 

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