A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS....

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Bibliographic Details
Published in:Calcified tissue international 2020-07, Vol.107 (1), p.96-103
Main Authors: Eltan, Mehmet, Alavanda, Ceren, Yavas Abali, Zehra, Ergenekon, Pinar, Yalındag Ozturk, Nilufer, Sakar, Mustafa, Dagcinar, Adnan, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Gokdemir, Yasemin, Elcioglu, Huriye Nursel, Guran, Tulay, Bereket, Abdullah, Ata, Pinar, Turan, Serap
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Age
Anterior fontanel
Biochemistry
Biomedical and Life Sciences
Bone growth
Calcification
Casein Kinase I - genetics
Cell Biology
Cleft Palate - complications
Computed tomography
Cornea
Endocrinology
Exophthalmos - complications
Extracellular Matrix Proteins - genetics
Humans
Hydrocephalus
Hypophosphatemia
Hypophosphatemia - etiology
Infant
Life Sciences
Long bone
Male
Medullary bone
Microcephaly - complications
Mutation
Original Research
Orthopedics
Osteogenesis
Osteopenia
Osteosclerosis
Osteosclerosis - complications
Palate
Respiratory failure
Ulna
Ultrasound
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Summary:Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.
ISSN:0171-967X
1432-0827
DOI:10.1007/s00223-020-00694-3