Raine Syndrome, a Rare Lethal Osteosclerotic Bone Dysplasia: Prenatal Diagnosis With 3‐Dimensional Ultrasound and a Postnatal Clinical Exome Evaluation

2020 ◽  
Author(s):  
Chander Lulla ◽  
Alifya Bapai
Keyword(s):  
Prenatal Diagnosis ◽  
Bone Dysplasia ◽  
3 Dimensional ◽  
Raine Syndrome

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

Value of 3-Dimensional Sonography for Prenatal Diagnosis of Vertebral Formation Failure

2013 ◽  
Vol 32 (4) ◽  
pp. 595-607 ◽  
Author(s):  
Qiuju Wei ◽  
Ailu Cai ◽  
Xiaoguang Wang ◽  
Limei Xie ◽  
Bing Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
3 Dimensional

scholarly journals P04.17: Prenatal diagnosis of persisting right umbilical vein (PRUV)-3-dimensional sonography with power Doppler

2005 ◽  
Vol 26 (4) ◽  
pp. 400-401
Author(s):  
P. Y. Yang ◽  
J.-L. Wu ◽  
G.-P. Yeh ◽  
P.-H. Chou ◽  
J.-C. Hsu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Vein ◽  
Power Doppler ◽  
3 Dimensional

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

Collaborative Study on 3-Dimensional Sonography for the Prenatal Diagnosis of Central Nervous System Defects

2011 ◽  
Vol 30 (7) ◽  
pp. 1003-1008 ◽  
Author(s):  
Giuseppe Rizzo ◽  
Alfred Z. Abuhamad ◽  
Beryl R. Benacerraf ◽  
Rabih Chaoui ◽  
Edgardo Corral ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Collaborative Study ◽  
3 Dimensional ◽  
Central Nervous System Defects

Unilateral Hand Oligodactyly: Prenatal Diagnosis With 3-Dimensional Sonography

2012 ◽  
Vol 31 (11) ◽  
pp. 1856-1857 ◽  
Author(s):  
José Morales Roselló ◽  
Ana García Almela ◽  
Daniel Antonio Pérez Corella ◽  
Luis Montesinos Sepúlveda
Keyword(s):  
Prenatal Diagnosis ◽  
3 Dimensional

Prenatal Diagnosis of Penoscrotal Transposition With 2- and 3-Dimensional Ultrasonography

2011 ◽  
Vol 30 (10) ◽  
pp. 1397-1401 ◽  
Author(s):  
Yanhai Wang ◽  
Ailu Cai ◽  
Jiaxing Sun ◽  
Ting Li ◽  
Bing Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
3 Dimensional ◽  
Penoscrotal Transposition

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.

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