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15 Possible Causes for Acute Respiratory Failure, Poor Feeding, 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] Poor feeding and breathing difficulties are often noted in this period.[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]

  • Growth Failure

    […] accidental trauma, or respiratory failure)—Growth hormone use has not been studied in patients with these serious illnesses.[mayoclinic.org] This is called poor feeding.[medlineplus.gov] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Mucopolysaccharidosis 6

    (requiring additional BMT) in 4 patients, acute respiratory distress syndrome in 3 patients, and death in 4 patients.[jamanetwork.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] […] infections (including sepsis) in 7 patients, Epstein-Barr virus lymphoproliferative disorder in 1 patient, myasthenia gravis in 1 patient, hemolytic anemia in 1 patient, graft failure[jamanetwork.com]

  • Pipecolic Acidemia

    Affected infants often have recurrence of acute illness with metabolic acidosis, vomiting, failure to thrive, lethargy, hypotonia, hepatomegaly, seizures and respiratory distress[genedx.com] Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy.[wordnetonline.com] RCDP types II and III are characterized by variable severity of clinical manifestations and by disproportionately short stature that primarily affects the proximal parts of[emedicine.medscape.com]

  • 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] […] breast and ovarian cancer syndrome Hereditary breast cancer Hereditary nonpolyposis colon cancer Hereditary site-specific ovarian cancer syndrome Intellectual disability-feeding[csbg.cnb.csic.es] 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]

  • 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] Difficulties, and Delayed Brain Myelination 1 Neurodevelopmental Disorder with Involuntary Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain[preventiongenetics.com] It often goes unrecognized in childhood and is diagnosed in adult life when disproportionate short stature becomes obvious [ 87 ].[intechopen.com]

  • 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] Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding[se-atlas.de] short-limb short stature Hypoplastic ilia Severe short stature Hyperlordosis Limb undergrowth Irregular capital femoral epiphysis Abnormal facial shape High myopia Severe[mendelian.co]

  • 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] Difficulties, and Delayed Brain Myelination 1 Neurodevelopmental Disorder with Involuntary Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain[preventiongenetics.com] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Autosomal Recessive Nail Dysplasia

    failure and limb paralysis (patient will require life support and anticoagulation to prevent deep-vein thrombosis); spontaneous recovery occurs over several weeks/months;[medical-dictionary.thefreedictionary.com] difficulties with failure to thrive Neonatal diffuse erythema and scaling What if my patient looks like he has X-linked ectodermal dysplasia but he has significant infections[clinicaladvisor.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]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    […] 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] feeding, gastroesophageal reflux, constipation).[mendelian.co] Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. [ read more ] 22444671 POLR1C[nectarmutation.org]

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