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

No comments: