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A muscular woman with moon facies! What is the diagnosis?

S Kannan, I Khanna, M Kaur… - Endocrine Practice, 2011 - AACE
... musculature. On physical exam she was noted to have moon facies (Figure1), dorsocervical
fat pad, acanthosis nigricans in the nape of her neck and hypertrophic ... low HDL (34 mg/dl).
Ultrasound of the liver revealed hepatic steatosis. Work up for ...
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Genetic Diseases and Associated Urologic Manifestations

JS Palmer… - Pediatric Urology, 2011 - Springer
... Newborns may present with olig- uria, Potter's facies, and respiratory distress due to pulmonary
hypoplasia. Congenital hepatic fibrosis is characteristic of ARPKD and correlates with the severity
of the renal cystic disease. Younger patients with ARPKD Page 4. 144 ...
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Altered FDG uptake patterns in pediatric lymphoblastic lymphoma patients receiving induction chemotherapy that includes very high dose corticosteroids

SE Sharp, MJ Gelfand… - Pediatric Radiology - Springer
... chemotherapy protocols that include very high doses of corticosteroids transiently demonstrated
altered FDG up- take patterns, including increased superficial facial uptake and reduced hepatic
uptake. The facial uptake is probably the FDG PET equivalent of Cushingoid facies. ...

Berardinelli-Seip Syndrome

[PDF] from cogprints.orgSI Dal… - Online Journal of Health and Allied Sciences, 2011 - cogprints.org
... the metabolic abnormalities since exogenous administration or- transgenic overexpression of
leptin has been shown to markedly improve insulin sensitivity, glycemic control, dyslip- idemia
and hepatic steatosis in mice. ... Lipodystrophies produce a distinctive facies. ...
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Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital

P Subramaniam, A Knisely, B Portmann… - Journal of pediatric …, 2011 - journals.lww.com
... of AGS allows genetic counselling and screening for complications including cardiac, renal, growth
retardation (10–14) , and hepatic disease (10–18 ... to that previously reported in other large patient
cohorts (4,10–12,20) , but that of the characteristic facies, posterior embryotoxon ...
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