Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

According to the authors, a valuable study of dysmorphy can only be made with the use of anthropometric observations. To stress that point of view, a case of oculo-mandibulo-dyscephaly with hypotrichosis is studied. Furthermore a complete ENT study of this case is performed. At the same time, the heredity of the syndrome is discussed.
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PMID:[New data apropos of a case of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). ORL examination and anthropometry]. 90 26

Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary genodermatosis characterized by a triad of defects including hypohidrosis hypotrichosis and anomalous dentition. Mainly ectodermal structures are involved such as epidermis and its annexes (hair & nails), although non-ecotodermal tissue may also became involved(1). ENT involvement in such cases is a consequence of the defect involving the eccrine and sebaceous glands. A case of a 3 years old female child suffering from hypohidrotic ectodermal dysplasia with features of Atrophic Rhinitis from infancy & early childhood is reported here. Management of these patients is mainly supportive and otolaryngologist is a vital component of the health care team managing such patients.
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PMID:Hypohidrotic (Anhidrotic) Ectodermal dysplasia - A rare cause of childhood Atrophic Rhinitis". 2312 Feb 89