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  1. 31301
    “…The treatment for hypoxemia resulting from multiple small or diffuse PAVMs remains unclear. We report a girl aged 5 years and 10 months presented with cyanosis and decreased activity after exercise (83–85% of pulse oxygen saturation, SpO(2)). …”
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    Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies
  2. 31302
    “…The patient underwent a cesarean section at 39 weeks of gestation to give birth to a healthy baby girl with an Apgar score of 10. Pregnancy complicated by CS is clinically rare, easily masked by normal physiological changes of pregnancy, and is difficult to diagnose. …”
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    Pregnancy complicated with adrenal adenoma causing ACTH-independent Cushing’s syndrome, accompanied by obstetric antiphospholipid syndrome and severe pre-eclampsia: case report and literature review
  3. 31303
    “…MATERIALS AND METHODS: The family recruited in this study was a consanguineous Iranian family with an intellectually disabled girl referred to the Sadra Genetics laboratory, Shahrekord, Iran. …”
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    A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability
  4. 31304
    “…CASE SUMMARY: We described herein a case of upper gastrointestinal bleeding in a 16-year-old girl with MWS and chronic psychiatric distress, the latter of which deteriorated following her parents’ divorce. …”
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    Mallory-Weiss syndrome from giant gastric trichobezoar: A case report
  5. 31305
    “…CASE PRESENTATION: A 7-year-old girl initially presented with diffuse desquamatory rash at age 3. …”
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    A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review
  6. 31306
    “…CASE PRESENTATION: A 10-year-old girl suffering from MPS IVA with many signs of orthopedic manifestations. …”
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    Hinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report
  7. 31307
    por Hemmati, Fariba, Barzegar, Hamide
    Publicado 2023
    “…CASE PRESENTATION: A 1-day-old Iranian girl presented with respiratory distress and refractory metabolic acidosis. …”
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    Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature
  8. 31308
    “…CASE PRESENTATION: A 14-year-old girl was admitted to the hospital because of acute lower abdominal pain. …”
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    Primary endodermal sinus tumor originating from the sacral ligament: a case report and review of the literature
  9. 31309
    “…CASE PRESENTATION: Here, we report a 5-year-old girl with clinical features similar to WDSTS, including postnatal growth delay, retarded intellectual development, and ocular hypertelorism. …”
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    A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
  10. 31310
    “…Ninety-two participants represented the visuospatial perspectives of a boy, girl, man, or woman who were presented at various angular disparities. …”
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    Manipulating avatar age and gender in level-2 visual perspective taking
  11. 31311
    “…BACKGROUND: Girl child marriage is increasingly recognized as a critical barrier to global public health and gender discrimination. …”
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    Prevalence and factors associated with child marriage, a systematic review
  12. 31312
    “…CASE: We report a 15-year-old girl with five-year history of painful purplish red plaques on her left cheek, neck, chest, left shoulder, and back. …”
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    Effectiveness of Pulsed Dye Laser Treatment in Tufted Angioma: A Promising Intervention
  13. 31313
    “…Her physical examination revealed a newborn girl with dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. …”
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    Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report
  14. 31314
    por Ali, Ahmed, McCreary, David J.
    Publicado 2023
    “…A previously fit and well 10-year-old girl presented to the paediatric emergency department with worsening headache, fever and lethargy. …”
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    Optic nerve sheath diameter measurement for the paediatric patient with an acute deterioration in consciousness
  15. 31315
    “…One patient (a 10-yr-old girl) was confirmed to have rearrangement, deletion of the telomeric portion of the short arm of chromosome 4 (4p). …”
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    Screening of Subtelomeric Rearrangements in 100 Korean Pediatric Patients with Unexplained Mental Retardation and Anomalies Using Subtelomeric FISH (Fluorescence In Situ Hybridization)
  16. 31316
    “…CASE PRESENTATION: We describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases. …”
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    A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
  17. 31317
    “…We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. …”
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    Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia
  18. 31318
    “…RESULTS: Chromosome anomalies were found in the BM of three patients, without any morphological evidence of MDS: 1) an acquired complex rearrangement of chromosome 21 in a boy with severe aplastic anaemia (SAA); the rearrangement caused the loss of exons 2–8 of the RUNX1 gene with subsequent hypoexpression. 2) a constitutional complex rearrangement of chromosome 21 in a girl with congenital thrombocytopenia; the rearrangement led to RUNX1 disruption and hypoexpression. 3) an acquired paracentric inversion of chromosome 1, in which two regions at the breakpoints were shown to be lost, in a boy with aplastic anaemia; the MPL gene, localized in chromosome 1 short arms was not mutated neither disrupted, but its expression was severely reduced: we postulate that the aplastic anaemia was due to position effects acting both in cis and in trans, and causing Congenital Amegakaryocytic Thrombocytopenia (CAMT). …”
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    Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes
  19. 31319
    “…Autoantibody screen revealed a girl with positive anti-liver kidney microsomal antibody (1%) and 8 children had positive anti-nuclear antibody (7.5%), without clinical, biochemical or radiologic evidence of liver disease. …”
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    Autoimmune hepatitis related autoantibodies in children with type 1 diabetes
  20. 31320
    “…We report on two patients: Patient 1 is a boy with developmental delay and autism; and Patient 2 is a girl with developmental delay, hypotonia and dysmorphism. …”
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    Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern
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