Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reports on previously undescribed dentofacial features a child suffering from Glycogen-Storage Disease type III with hepatomegaly and hypertransaminasemia with muscular involvement. Deficient craniofacial development, reduced width of the upper jaw resulting in posterior cross-bite, and taurodontism of the primary dentition were found. Pathogenetic basis for craniofacial abnormalities is discussed. Cooperation between pediatricians and pediatric dentists is strongly recommended for an early diagnosis and treatment of the dentofacial defects of the syndrome.
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PMID:Dental and craniofacial findings in a child affected by glycogen storage disease type III. 786 25