Monday, April 30, 2012

Dish-face deformity

The middle of the face around the nose area may be hypoplastic (underdeveloped) in Larsen syndrome giving the face a look resembling a dish – dish-face. Other features of this syndrome named after Larsen who described it can include a tendency for the large joints to dislocate as well as abnormalities of the hands and feet.
Larsen syndrome is rare and is typically inherited in a dominant manner; meaning only one copy of the abnormal gene is enough to cause the syndrome when inherited from a parent who has the syndrome.
Mid-face fractures can also result in one developing the dish face-deformity.
Kaissi A, Ganger R, Klaushofer K, Grill F. The management of knee dislocation in a child with Larsen syndrome. Clinics (Sao Paulo), 2011, 66(7):1295–1299. Go to reference
Go to Improbable version of this post

Dish, Autosomal dominant inheritance

Monday, April 9, 2012

Coffee bean sign

The sigmoid colon is a part of the large intestine; it can twist upon itself abnormally – sigmoid volvulus.
Sigmoid volvulus is a life threatening condition that can present with vomiting, abdominal distension, abdominal pain and inability to pass flatus and stool, which emanate from intestinal obstruction caused by the sigmoid colon twisting on itself.
Abdominal X-rays in individuals with sigmoid volvulus usually have the coffee bean sign, so named because the dilated obstructed bowel which has coiled upon itself has an appearance resembling a coffee bean.
The coffee bean sign is also known as the 'omega', 'bent inner tube' or 'inverted U’ sign. The coffee bean sign is not exclusive to sigmoid volvulus, it can also be a feature of other diseases.
Feldman D. The coffee bean sign. Radiology, 2000 216:178-179 (also source of image). Go to reference

Abdominal X-ray showing the coffee bean sign, coffee beans