Lethal Larsen-like syndrome

MONDO:0009512

Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.

Also known as: Larsen-like multiple joint dislocation syndrome, Larsen-like syndrome, lethal type

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