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25 Possible Causes for 'Doll Like' Facies

  • Glycogen Storage Disease Type 1

    facies Doll-like facial appearance 0000295 Elevated hepatic transaminase High liver enzymes 0002910 Enlarged kidney Large kidneys 0000105 Focal segmental glomerulosclerosis[rarediseases.info.nih.gov] , xanthomatosis, abnormal bleeding, bleeding tendency, decreased glomerular filtration rate, decreased muscle mass, underdeveloped muscles, delayed pubertal development, doll-like[xpertdox.com] […] disease Nephropathy Diabetes mellitus Splenomegaly Rare Symptoms - Less than 30% cases Lipemia retinalis Pain Oral ulcer Anemia Tics Protuberant abdomen Enlarged kidney Doll-like[mendelian.co]

  • Disorder of Carbohydrate Metabolism

    […] and/or conduction blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia , mild ketosis Severe hyperlipidemia doll-like[amboss.com] facies Hyperuricemia Lactic acidosis Anemia Failure to thrive Nephritic syndrome ( FSGS type) Delayed puberty Osteoporosis Neutropenia oral ulcers, GI infections (only in[amboss.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    […] and/or conduction blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia , mild ketosis Severe hyperlipidemia doll-like[amboss.com] facies Hyperuricemia Lactic acidosis Anemia Failure to thrive Nephritic syndrome ( FSGS type) Delayed puberty Osteoporosis Neutropenia oral ulcers, GI infections (only in[amboss.com]

  • Glycogen Storage Disease Type 1D

    facies Doll-like facial appearance 0000295 Elevated hepatic transaminase High liver enzymes 0002910 Enlarged kidney Large kidneys 0000105 Focal segmental glomerulosclerosis[rarediseases.info.nih.gov] GSD1B is caused by changes ( mutations ) in the SLC37A4 gene and is inherited in an autosomal recessive manner. 0000823 Doll-like facies Doll-like facial appearance 0000295[rarediseases.info.nih.gov] […] filtration rate 0012213 Decreased muscle mass Underdeveloped muscles 0003199 Delayed puberty Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ] 0000823 Doll-like[rarediseases.info.nih.gov]

  • Glycogen Storage Disease Type 5

    What GSD is associated with doll-like facies, protuberant abdomen, thin extremities, massive hepatomegaly, and short stature?[quizlet.com]

  • Glycogen Storage Disease

    Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound.[ncbi.nlm.nih.gov]

  • Disorder of Fructose Metabolism

    […] and/or conduction blocks Post-prandial hyperglycemia Lactic acidosis Hepatomegaly (with hepatic adenomas ) Severe fasting hypoglycemia , mild ketosis Severe hyperlipidemia doll-like[amboss.com] facies Hyperuricemia Lactic acidosis Anemia Failure to thrive Nephritic syndrome ( FSGS type) Delayed puberty Osteoporosis Neutropenia oral ulcers, GI infections (only in[amboss.com]

  • Citrin Deficiency

    Doll Like facies… What is it ?[slideshare.net] On examination, weight was 5.6 kg, height was 59 cm, she had doll like facies with hepatosplenomegaly.[tropicalgastro.com] Ammonia :119 (Normal:11-47) GAL1PUT & Epimerase normal Persisting: Doll like facies Organomegaly AST/ALT: 253/180 T.[slideshare.net]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Synopsis hepatomegaly failure to thrive renal dysfunction recurrent infections Short stature Delayed puberty ’Doll-likefacies Lipemia retinalis Hypertension Protuberant[humpath.com]

  • Citrullinemia Type 2, Neonatal Onset

    On examination, weight was 5.6 kg, height was 59 cm, she had doll like facies with hepatosplenomegaly.[tropicalgastro.com]

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