• Users Online: 170
  • Print this page
  • Email this page
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 244-246

Neonatal osteosclerotic bone dysplasia (Raine syndrome)

Department of Neonatology, Niloufer Hospital, Osmania Medical College, Hyderabad, Telangana, India

Correspondence Address:
Dr. Swapna Lingaldinna
HNo. - 16-1-18/27, 1st Floor, Sri Krishna Nilayam, Saidabad Colony, Hyderabad - 500 059, Telangana
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_157_21

Rights and Permissions

Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there have been cases of patients surviving into childhood. Clinical Description: We describe the case of a neonate girl born with microcephaly, proptosis, triangular mouth, depressed flat nasal bridge, mid-face hypoplasia, low set ears, high-arched palate, and a wide-open anterior fontanelle. Based on the clinical phenotype, the differentials considered were a congenital infection and Crouzon syndrome. Management: Infantogram revealed generalized osteosclerosis. Based on the radiological phenotype, the differentials considered include Thanatophoric dysplasia, osteopetrosis, and Achondroplasia. Search for concealed anomalies revealed dysmorphic features in the brain and kidneys. The clinical exome demonstrated a heterozygous missense and heterozygous nonsense variant in exon-7 of the FAM20C gene, which established the diagnosis of Raine syndrome. Conclusion: Genetic analysis based on phenotype can aid in the early diagnosis of dysmorphic children and help in instituting appropriate management

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded62    
    Comments [Add]    

Recommend this journal