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02/22/2012 10:01 PM
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Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
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Turk J Pediatr. 2008 Jul-Aug; 50(4): 395-9 Orhan D, Balci S, Deren O, Utine EG, Başaran A, Kale G Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome.
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02/22/2012 10:01 PM
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Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome.
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Clin Genet. 1997 Jun; 51(6): 408-11 Kurtoglu S, Dundar M, Hallaç IK, Uzüm K, Okumuş Y, Oktem T Larsen's syndrome is characterised by multiple joint dislocations, flat face and talipes equinovarus. There is an autosomal dominant form and also a more severe autosomal recessive form. Several types of polycystic kidney disease have been reported in children. In this report we present an infant with a severe form of Larsen's syndrome (thought to be lethal Larsen-like), infantile-type polycystic kidney disease, biliary dysgenesis and osteosclerosis.
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