Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 8
Print this page  Email this page Small font sizeDefault font sizeIncrease font size


 
            Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 1  |  Page : 72-74
 

Raine syndrome


Department of Pediatrics, Vijayanagar Institute of Medical Sciences, Cantonment, Bellary, Karnataka, India

Date of Web Publication19-May-2014

Correspondence Address:
B. Vishwanath
Department of Pediatrics, Vijayanagar Institute of Medical Sciences, Cantonment, Bellary 583 104, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.132761

Rights and Permissions

 

   Abstract 

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation.


Keywords: Lethal, osteosclerosis, Raine syndrome


How to cite this article:
Vishwanath B, Srinivasa K, Shankar MV. Raine syndrome. Indian J Hum Genet 2014;20:72-4

How to cite this URL:
Vishwanath B, Srinivasa K, Shankar MV. Raine syndrome. Indian J Hum Genet [serial online] 2014 [cited 2016 Aug 24];20:72-4. Available from: http://www.ijhg.com/text.asp?2014/20/1/72/132761



   Introduction Top


Raine syndrome, also called as lethal osteosclerotic bone dysplasia, first described by Raine and Winter in 1989 in a term female baby, which died soon after birth. This has high mortality and most babies are still born or die during the neonatal period. This is very rare genetic disorder and very few cases have been reported all over. To the best of our knowledge, this second reported case from India.


   Case Report Top


A 1-month-20-day-old baby, born to second degree consanguineous parents, was brought with complaints of inability to suck at the breast and failure to thrive since birth. There was a history of episodes of cyanosis while feeding, which used to subside by crying. Baby was fed with cow's milk and expressed breast milk. Mother was booked a case with no significant antenatal history. The baby cried soon after birth. This was fifth baby born to parents. The first baby and fourth baby died soon after birth and they had features suggestive of Raine syndrome. Third child is 4-year-old now and he is healthy.

Physical examination revealed stable vitals and there was no cyanosis. Baby was weighing 2.75 kg, length was 48 cm and head circumference was 33 cm. The anterior fontanel was bulged; it was measuring 6 cm × 4 cm and posterior fontanel 5 cm × 4 cm. There was exophthalmos, small nose with depressed nasal bridge, gum hyperplasia, high-arched narrow palate, long philtrum and dysplastic ears [Figure 1]. Baby was also having short fingers and toes. The infant feeding tube (sizes 5 and 6) could not be passed through the nose indicating associated choanal atresia/stenosis. Fibreoptic posterior rhinoscopy examination revealed the presence of choanal atresia. Baby's lungs were clear cardiovascular system, central nervous system and abdominal examinations were normal.
Figure 1: Raine syndrome baby showing exophthalmos, small nose with depressed nasal bridge, long philtrum and dysplastic ears

Click here to view


Baby's routine blood investigations were normal. Infantogram of the baby showed generalized osteosclerosis [Figure 2]. Computed tomography scan of the brain showed diffuse hyperdense areas of calcification in periventricular region, corpus callosum and basal ganglia on both sides [Figure 3]. Serology for congenital cytomegalovirus infection was negative. The molecular studies could not be carried out due to the financial constraints. Diagnosis of Raine syndrome was made based on typical clinical presentation, radiographic picture and brain tomography findings.
Figure 2: Infantogram of baby showing generalized osteosclerosis of bones

Click here to view
Figure 3: Computed tomography scan of the brain showing calcifications in periventricular white matter, corpus callosum and basal ganglia

Click here to view



   Discussion Top


Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive disorder characterized by exophthalmos, microcephaly, depressed nasal bridge, bilateral choanal atresia/stenosis, gum hyperplasia and osteosclerosis. [1] The osteosclerosis is usually generalized, but occasionally may be focal involving only few bones. [2] Palate usually shows cleft, but may be higharched and narrow. The babies affected with this disorder show intracranial calcifications. [3] Calcifications are seen in parietal and occipital periventricular white matter and corpus callosum, but never occur in cortex, temporal lobes, internal capsule, cerebellum and brain stem. [4]

Major association between sclerosing dysplasia and intracranial calcification is seen in osteopetrosis associated with renal tubular acidosis and carbonic anhydrase II deficiency. [5] However, in this disorder, the calcifications are usually seen after 2 years of age exclusively in basal ganglia and cortex and characteristic clinical features of Raine syndrome are lacking. [3],[6]

It is inherited as autosomal recessive; mutations in FAM20C gene on chromosome 7 are identified in babies with this disorder. [7]

Initial reports showed that this disorder is lethal and most of babies with this disorder died in early months of their life. However, mutations in FAM20C gene were also noticed in older children with phenotypic features of Raine syndrome with osteosclerosis, indicating that lethality is not essential for diagnosis. [8]

 
   References Top

1.Raine J, Winter RM, Davey A, Tucker SM. Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 1989;26:786-8.  Back to cited text no. 1
    
2.Al-Gazali LI, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R. Further delineation of Raine syndrome. Clin Dysmorphol 2003;12:89-93.  Back to cited text no. 2
    
3.Al Mane KA, Coates RK, McDonald P. Intracranial calcification in Raine syndrome. Pediatr Radiol 1996;26:55-8.  Back to cited text no. 3
    
4.Rickert CH, Rieder H, Rehder H, Hülskamp G, Hörnig-Franz I, Louwen F, et al. Neuropathology of Raine syndrome. Acta Neuropathol 2002;103:281-7.  Back to cited text no. 4
    
5.Ohlsson A, Cumming WA, Paul A, Sly WS. Carbonic anhydrase II deficiency syndrome: Recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 1986;77:371-81.  Back to cited text no. 5
[PUBMED]    
6.Nampoothiri S, Anikster Y. Carbonic anhydrase II deficiency a novel mutation. Indian Pediatr 2009;46:532-4.  Back to cited text no. 6
    
7.Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet 2007;81:906-12.  Back to cited text no. 7
    
8.Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet 2009;75:271-6.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


This article has been cited by
1 Diagnostic dilemma: Osteopetrosis with superimposed rickets causing neonatal hypocalcemia
A. Olgac,L. Tumer,O. Boyuna a,M. K z lkaya,A. Hasano lu
Journal of Tropical Pediatrics. 2015;
[Pubmed] | [DOI]



 

Top
Print this article  Email this article
           

    

 
   Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (816 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed1070    
    Printed25    
    Emailed0    
    PDF Downloaded65    
    Comments [Add]    
    Cited by others 1    

Recommend this journal