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  1. 30201
    “…A five year girl had eczema and allergic rhinitis in the past, presented with a history of cough, shortness of breath for the last one month. …”
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    Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case
  2. 30202
    “…RESULTS: Intrathecal nusinersen via real-time ultrasound-guided lumbar puncture was given to three patients who had severe thoracic and lumbar scoliosis: a 34-year-old female with type 3a SMA, a 28-year-old male with type 2a SMA, and a 14-year-old girl with type 3a SMA. Lumbar puncture was performed without sedation under ultrasound guidance using a 22G echogenic needle in the interlaminar aspect of the L4–L5 or L5–S1 interspace and a full dose of nusinersen (12 mg/5 mL) was injected after visualizing free cerebrospinal fluid flow. …”
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    Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study
  3. 30203
    “…Here, we describe an 11-year-old Finnish girl, born to unrelated healthy parents, who had severe short stature and a phenotype similar to odontochondrodysplasia (ODCD), a monogenic skeletal dysplasia caused by biallelic TRIP11 variants. …”
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    Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
  4. 30204
    “…CASE SUMMARY: We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking. …”
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    Botulinum toxin injection for Cockayne syndrome with muscle spasticity over bilateral lower limbs: A case report
  5. 30205
    “…Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. …”
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    Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review
  6. 30206
    “…Case Report: A 7-year-old girl with 1-month history of neck pain and 3-week history of progressive weakness in the right hand was presented. …”
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    Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient
  7. 30207
    “…In both cases, the patients exhibited mental retardation, characteristic facial features, and indirect inguinal hernia. Case 1, a girl aged 2 years and 5 months old, presented with hypercalcemia, and in case 2, a boy aged 4 years and 11 months old, the disorder manifested as infantile spasms, supravalvular aortic stenosis, and pulmonary stenosis. …”
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    Clinical and genetic characteristics of two cases with Williams-Beuren syndrome
  8. 30208
    por Chen, Na, Zeng, Da-Shun, Su, Yu-Tong
    Publicado 2021
    “…CASE SUMMARY: A 22-year-old girl was found to have a left painless floor-of-mouth lesion 3 years ago, without obvious trauma or inducement. …”
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    Role of ranulas in early diagnosis of Sjögren’s syndrome: A case report
  9. 30209
    “…CASE PRESENTATION: A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. …”
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    Juvenile Granulosa Cell Tumor as the Presenting Feature of McCune-Albright Syndrome
  10. 30210
    “…We report a case of an acquired Bartter-like syndrome (BLS) after 3 days of treatment initiation and improved after discontinuation of colistin therapy in pediatric intensive care unit. A 2-month-old girl with spinal muscular atrophy type 1 who had respiratory distress received colistin therapy with a dose of 5 mg/kg/day for Acinetobacter baumannii complex isolation from endotracheal aspirate on the 12(th) day follow-up. …”
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    Acquired Bartter-like Syndrome Presenting with Polyuria and Reversible Hypokalemia Associated with Colistin Use in a Critically Ill Pediatric Patient
  11. 30211
    “…Here, we describe an 8-year-old girl with childhood interstitial lung disease (chILD), systemic hypertension, and immunological findings who carries a homozygous stop-gain variant (c.469G>T, p.…”
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    A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
  12. 30212
    “…Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. …”
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    Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype
  13. 30213
    “…MATERIALS AND METHODS: Comparison of 5 years of step counts and minutes asleep from a teenaged girl and her father. RESULTS: At 60 months, this may be the longest reported pediatric study involving a wearable fitness device, and the first simultaneously involving a parent and a child. …”
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    Five-year pediatric use of a digital wearable fitness device: lessons from a pilot case study
  14. 30214
    “…Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging. A 23-day-old girl was referred to our department for brain imaging. …”
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    Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement
  15. 30215
    “…PATIENT CONCERNS: We present a case of a 39-month-old previously healthy girl who was admitted to our hospital for suspected FB aspiration (FBA). …”
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    Cardiopulmonary bypass as a bridge for bronchial foreign body removal in a child with pulmonary artery sling: A case report
  16. 30216
    “…Whole-exome sequencing in family trios plus Sanger sequencing validation identified a de novo heterozygous NIPBL c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel de novo heterozygous NIPBL c.448dupA (p.S150Kfs(*)23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of NIPBL in association with CdLS.…”
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    Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
  17. 30217
    “…Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolitis that was brought into remission by colectomy. …”
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    Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis
  18. 30218
    “…CASE PRESENTATION: A 13-year-old girl who had an intermittent fever for more than 10 months was admitted to our hospital. …”
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    A potential pathogenic role of interleukin-6 in a child with ANCA-negative pauci-immune crescentic glomerulonephritis: case report and literature review
  19. 30219
    “…CASE PRESENTATION: A nine-year-old girl with a full-blown TSC presented with abdominal masses detected during a routine check-up. …”
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    A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review
  20. 30220
    “…CASE SUMMARY: We report on a Chinese 9-year-old girl with GD with the c.5243G>T (p.C1748F) mutation in FBN1 (fibrillin 1, OMIM 134797). …”
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    Geleophysic dysplasia caused by a mutation in FBN1: A case report
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