title: Autosomal recessive brachyolmia: early radiological findings.
abstract: Brachyolmia (BO) is a heterogeneous group of skeletal dysplasias with skeletal changes limited to the spine or with minimal extraspinal features. BO is currently classified into types 1, 2, 3, and 4. BO types 1 and 4 are autosomal recessive conditions caused by PAPSS2 mutations, which may be merged together as an autosomal recessive BO (AR-BO). The clinical and radiological signs of AR-BO in late childhood have already been reported; however, the early manifestations and their age-dependent evolution have not been well documented. We report an affected boy with AR-BO, whose skeletal abnormalities were detected in utero and who was followed until 10 years of age. Prenatal ultrasound showed bowing of the legs. In infancy, radiographs showed moderate platyspondyly and dumbbell deformity of the tubular bones. Gradually, the platyspondyly became more pronounced, while the bowing of the legs and dumbbell deformities of the tubular bones diminished with age. In late childhood, the overall findings were consistent with known features of AR-BO. Genetic testing confirmed the diagnosis. Being aware of the initial skeletal changes may facilitate early diagnosis of PAPSS2-related skeletal dysplasias.
authors.affiliation: MassGeneral Hospital for Children and Harvard Medical School, 175 Cambridge Street, 5th Floor, Boston, MA, 02114, USA. handa-tky@umin.ac.jp.|Department of Radiology, St. Lukes's International Hospital, Tokyo, Japan. handa-tky@umin.ac.jp.
authors.forename: Atsuhiko
authors.initials: A
authors.lastname: Handa
authors.affiliation: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Emma
authors.initials: E
authors.lastname: Tham
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.|McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.|Department of Pediatric Endocrinology, Astrid Lindgren Childrens's Hospital, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Eva
authors.initials: E
authors.lastname: Horemuzova
authors.affiliation: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.|Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Giedre
authors.initials: G
authors.lastname: Grigelioniene
mesh_terms: D000375:Aging / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000473:pathology*; D013902:Radiography, Thoracic / Q000379:methods*
keywords: Autosomal recessive brachyolmia; Dumbbell deformity; PAPSS2; Platyspondyly; Skeletal dysplasia