De Grouchy Syndrome
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de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18. It has two forms, classified as type 1 or type 2, depending on the nature of the genetic lesion.
de Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p).
de Grouchy syndrome type 2 occurs when the long arm of the chromosome is affected (18q). It manifests clinically as mental retardation, short stature, hypotonia, hearing impairment, and foot deformities. Tapered digits and wide mouth have been described.[1] Approximately 80% of individuals affected by the syndrome are below the fifth centile in height.[1]
References
Further reading
de Grouchy, J.; Royer, P.; Salmon, C.; Lamy, M.: Deletion partielle des bras longs du chromosome 18. Path et Biol. 12: 579-582, 1964.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
