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18 Possible Causes for Acute Respiratory Failure, Macrocephaly, Severely Disproportionate Short Stature

  • Kyphoscoliosis

    This article reports a case study of 'Sue', a 37 year old female who was transferred to a metropolitan hospital's intensive care unit in acute respiratory failure secondary[ncbi.nlm.nih.gov] Kyphoscoliosis, macrocephaly, and various foot deformities have been described.[disorders.eyes.arizona.edu] short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia[mendelian.co]

  • Mucopolysaccharidosis 6

    (requiring additional BMT) in 4 patients, acute respiratory distress syndrome in 3 patients, and death in 4 patients.[jamanetwork.com] [symptoma.com] Macrocephaly Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[symptoma.com] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org]

  • Growth Failure

    […] accidental trauma, or respiratory failure)—Growth hormone use has not been studied in patients with these serious illnesses.[mayoclinic.org] Typical features that characterize this phenotype include distinctive coarse facial features, craniofacial anomalies, macrocephaly, low body mass gain, delayed development[amhsr.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Osteogenesis Imperfecta

    […] cases where life expectancy may be decreased, largely as a result of respiratory failure OI does not discriminate — it is found in males, females, and children of all ethnicities[childrensomaha.org] The clinical phenotypes of this OI included recurrent fractures, low bone mass, macrocephaly, blue sclera and failure to thrive.[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Thoracomelic Dysplasia

    Eosinophilic Pneumonia with Respiratory Failure Induced by Bonzai (Synthetic Cannabinoid) Inhalation P359 9:30 am - 4:15 pm A1504 Acute Fibrinous and Organizing Pneumonia[docmh.com] ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type Related symptoms: Micrognathia Macrocephaly Short neck Frontal bossing Anteverted nares SOURCES[mendelian.co] […] delay syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly[se-atlas.de]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] heart failure High blood pressure Respiratory diseases Lung diseases Birt-Hogg-Dube syndrome Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) Cutis[csirnotes.com] Leukoencephalopathy with Metaphyseal Chondrodysplasia Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis Loucks-Innes Syndrome Lowry Wood Syndrome Macrocephaly[rgd.mcw.edu] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Chondrodystrophy

    […] pericarditis【急性心膜炎】 *acute renal failure【急性腎不全】(acute renal insufficiency) *acute renal insufficiency【急性腎不全】(acute renal failure) *acute respiratory distress syndrome 【急性呼吸窮迫症候群[medo.jp] In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth.[en.wikipedia.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    […] heart failure High blood pressure Respiratory diseases Lung diseases Birt-Hogg-Dube syndrome Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) Cutis[csirnotes.com] Affiliated tissues include bone , and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 75 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal[malacards.org] short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay[orpha.net]

  • Acro-Pectoral Syndrome

    Montipora White Syndrome Miscellaneous Unclassified PAWS Means Post Acute Withdrawal Syndrome Miscellaneous Unclassified AHFS Means Acute Heart Failure Syndrome Miscellaneous[abreacro.com] Q18, Q18, M26.0 ICD-10-CM Diagnosis Code Q04 Other congenital malformations of brain 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cyclopia ( Q87.0 ) macrocephaly[icd10data.com] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au]

  • Dyschondrosteosis-Nephritis Syndrome

    Lung infections with acute respiratory failure occur throughout the first decade of life because of the thoracic cage abnormalities ( 206, 207 ).[basicmedicalkey.com] Walker syndrome recessive form Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures Dandy-walker malformation with mental retardation, macrocephaly[wikidoc.org] It often goes unrecognized in childhood and is diagnosed in adult life when disproportionate short stature becomes obvious [ 87 ].[intechopen.com]

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