LAUSR

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

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0 Published in 2020 at "Journal of Ultrasound in Medicine"

DOI: 10.1002/jum.15426

Abstract: Raine syndrome (RS) is a rare autosomal recessive osteosclerotic bone dysplasia (Online Mendelian Inheritance in Man 259775) with an estimated prevalence of less than 1 per 1,000,000 and was first reported by Raine et al… read more here.

Keywords: syndrome rare; raine syndrome; bone; dimensional ultrasound ... See more keywords

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

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0 Published in 2020 at "Prenatal Diagnosis"

DOI: 10.1002/pd.5818

Abstract: The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent. read more here.

Keywords: syndrome prenatal; diagnosis; raine syndrome; diagnosis based ... See more keywords

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

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1 Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6138

Abstract: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of… read more here.

Keywords: novel mutation; raine syndrome; mutation review; syndrome report ... See more keywords

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

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0 Published in 2018 at "Osteoporosis International"

DOI: 10.1007/s00198-018-4667-6

Abstract: Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of a 72-year-old man who presented with rapid progressive spontaneous osteonecrosis of the knee… read more here.

Keywords: osteonecrosis knee; hypophosphatemic osteomalacia; spontaneous osteonecrosis; raine syndrome ... See more keywords

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation

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1 Published in 2019 at "Calcified Tissue International"

DOI: 10.1007/s00223-019-00599-w

Abstract: Raine syndrome is a rare hereditary disease caused by mutations in the FAM20C gene. Only 18 non-lethal cases have been reported, the majority of them being children and young adults aged up to 30. Due… read more here.

Keywords: raine syndrome; non lethal; caused novel; middle aged ... See more keywords

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report

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2 Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1179163

Abstract: Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of… read more here.

Keywords: raine syndrome; heterozygous fam20c; compound heterozygous; fam20c gene ... See more keywords

Two Novel FAM20C Variants in a Family with Raine Syndrome

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1 Published in 2020 at "Genes"

DOI: 10.3390/genes11020222

Abstract: Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which… read more here.

Keywords: raine syndrome; family; case; two novel ... See more keywords

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis

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1 Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24108904

Abstract: FAM20C (family with sequence similarity 20, member C) is a serine/threonine-specific protein kinase that is ubiquitously expressed and mainly associated with biomineralization and phosphatemia regulation. It is mostly known due to pathogenic variants causing its… read more here.

Keywords: protein kinase; raine syndrome; fam20c brain; brain ... See more keywords