Home >> Study >> ForumTopic: 3-M syndrome
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| superbdoc Total Posts: 273 | Posted: Mon Oct 13, 2008 04:26 am 3-M syndrome/Dolichospondylic dysplasia/gloomy face syndrome/le Merrer syndrome Rare hereditary growth retardation syndrome thought to be inherited as an autosomal recessive genetic trait. The name 3-M originates from the initials of the three authors Miller, McKusick and Malvaux who first reported the syndrome in literature. No signs of mental retardation are reported. 3-M syndrome was linked to mutations of the Cullin7 gene that encodes a component of the Cullin7 E3 ubiquitin ligase. Major symptoms of 3M syndrome are dwarfism, facial dysmorphia and skeletal abnormalities. |
| juhidr Total Posts: 149 | Posted: Mon Oct 13, 2008 09:59 pm superb buddy...  |
| jemzcal Total Posts: 127 | Posted: Mon Oct 13, 2008 10:08 pm hehe, i sense a question there $$ all are features of 3M syndrome exept 1) mental retardation 2) dwarfism 3) facial dysmorphism 4) skeletal abnormailities and im sure non net medicos will go for (a)  |
| juhidr Total Posts: 149 | Posted: Mon Oct 13, 2008 10:11 pm We should request aiims paper setter to include this question |
| superbdoc Total Posts: 273 | Posted: Tue Oct 14, 2008 01:17 am Thats so right juhi...we have the advantage.. 
Also mug up the highlighted point like Cullin 7 gene and E3 ubiquitin ligase as these are catchy points..... To continue: Whats 3A syndrome... Be fast..!! Let me see who's the first to post.. |
| jemzcal Total Posts: 127 | Posted: Tue Oct 14, 2008 02:08 am 3A syndrome or Allgrove syndrome achalasia-addisonianism-alacrima syndrome characterized by 1)adrenal insufficiency specially glucocorticoid, which leads to high ACTH causing pigmentation. 2)alacrima- absence of tears 3)achalasia cardia add more superdoc |
| superbdoc Total Posts: 273 | Posted: Tue Oct 14, 2008 03:53 am Cat eye syndrome/Schmid-Fraccaro syndrome Clinical features Ocular coloboma; Anal atresia; Facial dysmorphism; Preauricular pits or tags; Heart and Renal malformations. *Gene map locus 22q11 Chromosome 22 partial tetrasomy =Inv dup(22)(q11) |
| juhidr Total Posts: 149 | Posted: Tue Oct 14, 2008 05:38 am POEMS syndrome - characterized by Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. |