Suggested Topics within your search.
Suggested Topics within your search.
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21
Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea
Published 2019-01-01“…Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. …”
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22
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Published 2020-01-01“…Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. …”
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23
Changes in the organ of vision in neurofibromatosis type 1 in the developmental age
Published 2024-10-01“…Neurofibromatosis type 1 is a genetic disorder with clinical manifestations determined by their origin in the three germ layers. …”
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24
Emergency cesarean section in a pregnant woman with Freeman-Sheldon syndrome and acute respiratory distress. A Case report
Published 2025-01-01“…Freeman-Sheldon syndrome is a rare genetic disorder characterized by a wide spectrum of bone abnormalities, joint contractures, and typical facial features. …”
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25
Median Mandibular Cleft in SAMS Syndrome – A Rare Case Report
Published 2023-04-01“…Rationale: SAMS syndrome is a rare genetic disorder characterized by midline facial clefting, skeletal anomalies, and other defects. …”
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26
Delayed Diagnosis of McCune–Albright Syndrome
Published 2021-01-01“…McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. …”
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27
Essentials of Pediatric Nursing /
Published 2013Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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28
Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
Published 2025-01-01“…Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. …”
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29
Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
Published 2023-01-01“…A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber’s hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. …”
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30
Poikiloderma with neutropenia: a case report
Published 2025-01-01“…Abstract Background Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. …”
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31
Successful Pulmonary Endarterectomy in a Patient with Klinefelter Syndrome
Published 2012-01-01“…Klinefelter syndrome (KS) is a frequent genetic disorder due to one or more supernumerary X chromosomes. …”
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32
GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Published 2025-01-01“…Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. …”
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33
Nail-Patella Syndrome Associated with Short Stature: A Case Series
Published 2010-01-01“…Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. …”
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34
Pediatric Nursing / A case Based Approach
Published 2024Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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35
Incidental imaging detection of Kartagener syndrome in a female: A case report
Published 2025-03-01“…Kartagener syndrome is a rare ciliopathic genetic disorder characterized by a triad of chronic sinusitis, situs inversus, and bronchiectasis. …”
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36
Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant
Published 2024-01-01“…Caffey disease, or infantile cortical hyperostosis, is a rare genetic disorder characterized by abnormal bone formation and swelling of limbs in infants. …”
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37
Case Report: A case of Tatton-Brown–Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene
Published 2025-01-01“…These symptoms suggested a possible genetic disorder. High-throughput sequencing revealed a specific mutation in the DNMT3A gene (NM_175629.2:c.2408 + 1G > A) associated with Tatton-Brown–Rahman syndrome. …”
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38
Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization
Published 2021-01-01“…Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. …”
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39
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
Published 2017-01-01“…Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. …”
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40
Managing Scoliosis in a Young Child with Rett Syndrome: A Case Study
Published 2005-01-01“…Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. …”
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