Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Mar 1, 2013.
what is your medical diagnosis ?
Hoho, isn't this famous "Cutis verticis gyrata"?? :-D
Cutis verticis gyrata.
Answer : Cutis verticis gyrata
Self Assessment Question
What is Ã…kesson syndrome?
a) Cutis verticis gyrata, hypoplastic thyroid disease and mental retardation
b) Malformations of the anterior chamber of the eye and teeth with abnormalities involving the craniofacial structures myotonic dystrophy umbilical anomalies and other variable defects Psychomotor retardation occurs in some cases
c) An inborn disorder of N-acetylneuraminic (sialic) acid storage characterized mainly by massive excretion of free sialic acid severe psychomotor deterioration and ataxia. The term Salla disease denotes the Finnish type of sialic acid storage disease named for the geographic area where the kindred lived The infantile form has no ethnic predilection and is associated with severe visceral involvement dysostosis multiplex psychomotor retardation and early death The Finnish type has onset at 12-18 months of age with deterioration in the second decade
[FONT=&]d) A hereditary disorder characterized by deaf-mutism retinitis pigmentosa and occasional mental retardation Early cases were reported mainly in Jews in Germany but later observations came from Finland Norway France England Israel Louisiana (the Acadian type affecting 44 per 100 000) and other parts Several types are recognized: Type I Synonyms: Usher syndrome type I (US1 USH1) Usher syndrome type IA (US1A USH1A) Usher syndrome French type Type IB Synonyms: Usher syndrome type IB (US1B USH1B) Usher syndrome non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C USH1C) Usher syndrome Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years Type II Synonyms: Usher syndrome type II (US2 USH2) Type IIB Synonyms: Usher syndrome IIB (US2B USH2B) Type III Synonyms: Usher syndrome type III (US3 USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss Schizophrenia reported in some cases Type IV Synonyms: Usher syndrome type IV (US4 USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait
It is better to be stunned now, than being stunned[/FONT][FONT=&] in the exam [/FONT]P:[FONT=&]
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