Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

2007 ◽  
Vol 143A (24) ◽  
pp. 3280-3285 ◽  
Author(s):  
David Chitayat ◽  
Patrick Shannon ◽  
Sarah Keating ◽  
Ants Toi ◽  
Susan Blaser ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Bone Dysplasia ◽  
Raine Syndrome

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification

2020 ◽  
Vol 40 (12) ◽  
pp. 1578-1597
Author(s):  
Sara H. El‐Dessouky ◽  
Mohamed S. Abdel‐Hamid ◽  
Sherif F. Abdel‐Ghafar ◽  
Mona M. Aboulghar ◽  
Hassan M. Gaafar ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intracranial Calcification ◽  
Facial Features ◽  
Raine Syndrome

scholarly journals Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Lorna Hirst ◽  
Gehan Abou-Ameira ◽  
Simon Critchlow
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Bone Dysplasia ◽  
Hypophosphataemic Rickets ◽  
Tertiary Referral Hospital ◽  
Street Hospital ◽  
Great Ormond Street Hospital ◽  
Dental Management ◽  
Raine Syndrome

Raine Syndrome (RS) also referred to as lethal osteosclerotic bone dysplasia describes an exceptionally rare autosomal recessive disorder with an estimated prevalence of <1 in 1,000,000. Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. The dental sequelae of hypophosphataemic rickets are significant. Spontaneous recurrent abscesses on noncarious teeth result in significant odontogenic pain and multiple dental interventions. The dental presentations of nonlethal RS are less widely described within the literature. Amelogenesis Imperfecta (AI), however, was recently postulated as a key characteristic. This article presents the dental manifestations and extensive restorative and oral surgical intervention of three siblings with hypophosphataemic rickets secondary to Raine Syndrome treated at Great Ormond Street Hospital for Children, a tertiary referral hospital.

scholarly journals Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant

2021 ◽  
pp. 1-5
Author(s):  
Nazan Eras ◽  
Yalcin Celik
Keyword(s):  
Genetic Disorder ◽  
Bone Dysplasia ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Limited Information ◽  
Sequencing Platform ◽  
Gene Sequence Analysis ◽  
Raine Syndrome

Raine syndrome (RS) is a rare genetic disorder characterized by osteosclerotic bone dysplasia caused by a homozygous mutation, compound heterozygous mutation, or microdeletion in the FAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the FAM20C gene sequence analysis. A novel homozygous variant c.1255T>C (p.W419R) in the FAM20C gene was diagnosed, and a nonlethal RS phenotype was confirmed, thus contributing to the expansion of the nonlethal RS phenotype. Since there is limited information about rare diseases, we believe that these studies will contribute to the literature and to the understanding of how these disorders develop and progress.

scholarly journals Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

2007 ◽  
Vol 81 (5) ◽  
pp. 906-912 ◽  
Author(s):  
M.A. Simpson ◽  
R. Hsu ◽  
L.S. Keir ◽  
J. Hao ◽  
G. Sivapalan ◽  
...  
Keyword(s):  
Bone Development ◽  
Bone Dysplasia ◽  
Raine Syndrome

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis
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