101. Aarskog-Scott Syndrome Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/aarskogscott_syndrome.html

Orphanet database access Aarskog-Scott syndrome Direct access to data Summary gene (faciogenital dysplasia type 1) that is mapped to Xp11.21. The mutation in this gene has been also found to cause mental retardation without other features of Aarskog syndrome. Occasional families suggestive of autosomal inheritance are also reported. Author: Dr S. Phadke (March 2003). Clinical signs Brachydactyly Broad foot Delayed bone age Everted lower lip Shawl scrotum Short stature/dwarfism Short/small nose Ulna deviation of fingers X-linked recessive inheritance Anteverted nares Broad forehead Clinodactyly of fifth finger High nasal bridge Hyperextensible joints Hypertelorism Inguinal hernia Long philtrum Lymphoedema/oedema Mental retardation(mild) Pectus excavatum Ptosis Short foot/brachydactyly of toes Simian crease Syndactyly of fingers Undescended/ectopic testes Cleft lip lateral Cleft palate Congenital cardiac anomaly Megalocornea Update : 04/09/2005 Orphanet database access

102. Aarskog's Syndrome With Hirschsprung's Disease, Midgut Malrotation, And Dental A A 23year-old man with aarskog s syndrome had Hirschspring s disease, midgutmalrotation, a renal cyst, a cartilaginous projection of the pinna, http://jmg.bmjjournals.com/cgi/content/abstract/17/3/235

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Hassinger, D. D. Articles by Chandler, J. B. Journal of Medical Genetics, 1980, Vol 17, 235-237 ARTICLES Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies DD Hassinger, JJ Mulvihill and JB Chandler A 23-year-old man with Aarskog's syndrome had Hirschspring's disease, midgut malrotation, a renal cyst, a cartilaginous projection of the pinna, geographic tongue, and dental anomalies. The family history, negative for these features, including several malignancies. Any or all of these

103. ORPHANET - Maladies Rares - Médicaments Orphelins http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=915

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