title: Criteria for radiologic diagnosis of hypochondroplasia in neonates.
abstract: BACKGROUND
  A radiologic diagnosis of hypochondroplasia is hampered by the absence of age-dependent radiologic criteria, particularly in the neonatal period.
  
  
  OBJECTIVE
  To establish radiologic criteria and scoring system for identifying neonates with fibroblast growth factor receptor 3 (FGFR3)-associated hypochondroplasia.
  
  
  METHODS
  This retrospective study included 7 hypochondroplastic neonates and 30 controls. All subjects underwent radiologic examination within 28 days after birth. We evaluated parameters reflecting the presence of (1) short ilia, (2) squared ilia, (3) short greater sciatic notch, (4) horizontal acetabula, (5) short femora, (6) broad femora, (7) metaphyseal flaring, (8) lumbosacral interpedicular distance narrowing and (9) ovoid radiolucency of the proximal femora.
  
  
  RESULTS
  Only parameters 1, 3, 4, 5 and 6 were statistically different between the two groups. Parameters 3, 5 and 6 did not overlap between the groups, while parameters 1 and 4 did. Based on these results, we propose a scoring system for hypochondroplasia. Two major criteria (parameters 3 and 6) were assigned scores of 2, whereas 4 minor criteria (parameters 1, 4, 5 and 9) were assigned scores of 1. All neonates with hypochondroplasia in our material scored ≥6.
  
  
  CONCLUSIONS
  Our set of diagnostic radiologic criteria might be useful for early identification of hypochondroplastic neonates.
authors: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan.
authors: Tomoko
authors: T
authors: Saito
authors: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan. nagasaki@med.niigata-u.ac.jp.
authors: Keisuke
authors: K
authors: Nagasaki
authors: Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors: Gen
authors: G
authors: Nishimura
authors: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan.
authors: Masaki
authors: M
authors: Wada
authors: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan.
authors: Hiromi
authors: H
authors: Nyuzuki
authors: Department of Endocrinology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.|Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Masaki
authors: M
authors: Takagi
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Tomonobu
authors: T
authors: Hasegawa
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Naoko
authors: N
authors: Amano
authors: Department of Maternal and Fetal Medicine, Tohoku University Graduate School of Medicine, Miyagi Children's Hospital, Sendai, Japan.
authors: Jun
authors: J
authors: Murotsuki
authors: Departments of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan.
authors: Hideaki
authors: H
authors: Sawai
authors: Departments of Obstetrics and Gynecology, Hokkaido University Hospital, Hokkaido, Japan.
authors: Takahiro
authors: T
authors: Yamada
authors: Department of Obstetrics and Gynecology, Aomori Rosai Hospital, Aomori, Japan.
authors: Shuhei
authors: S
authors: Sato
authors: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chu-Ou-Ku, Niigata, 951-8510, Japan.
authors: Akihiko
authors: A
authors: Saitoh
mesh_terms: D059925:Anatomic Landmarks / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities*; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008141:Lordosis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D009359:Neonatology / Q000592:standards; D010384:Pelvic Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D017410:Practice Guidelines as Topic; D011860:Radiography, Abdominal / Q000592:standards*; D013902:Radiography, Thoracic / Q000592:standards*; D011871:Radiology / Q000592:standards*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: Achondroplasia; FGFR3; Hypochondroplasia; Neonate; Radiography; Radiologic diagnosis; Scoring system