All Stories

  1. Small-for-gestational-age and eating problems in infants aged 2.5 years: a nationwide population-based study in Japan
  2. Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement
  3. Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: A case report
  4. Serum Alkaline Phosphatase Levels in Pediatric Kikuchi‐Fujimoto Disease: A Retrospective Observational Analysis
  5. Seven‐year‐old boy with severe dyspnoea and influenza virus infection
  6. Radiological characteristics of skeletal growth in neonates and infants with achondroplasia
  7. Association between infant breastfeeding practices and timing of peak height velocity: A nationwide longitudinal survey in Japan
  8. Respiratory pathogen trends in patients with Kawasaki disease during the COVID-19 pandemic and respiratory syncytial virus epidemic in Japan
  9. A 4‐month‐old female infant with breast development and virilisation
  10. A 9‐year‐old boy with severe motor and intellectual disabilities and prolonged abdominal distension
  11. The clinical course of Rathke’s cleft cysts in pediatric patients: impact on growth and pubertal development
  12. Infantile pyknocytosis with marked hemolytic anemia
  13. A novel pathogenic variant p. Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome an...
  14. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
  15. Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
  16. A 9-year-old girl with Kawasaki disease and pulmonary nodules
  17. Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control
  18. Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures
  19. Sorafenib treatment for papillary thyroid carcinoma with diffuse lung metastases in a child with autism spectrum disorder: a case report
  20. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
  21. Clinical Epidemiology and Treatment of Febrile and Afebrile Convulsions With Mild Gastroenteritis: A Multicenter Study
  22. Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
  23. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
  24. HDR syndrome in a Japanese girl with biliary atresia: a case report
  25. A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia
  26. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
  27. The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report