A case of Larsen sydrome with joint and fascial anomaly

Abstract

Larsen syndrome is a rare genetic disorder, with an incidence of 1/ 100000. Ultrasonography is important in prenatal diagnosis. Joint hypermobility, spinal deformity, congenital joint dislocations, distinctive facial features are characteristic findings in newborn. An autosomal dominant form and a more severe autosomal resesive form have been described. Larsen syndrome is discussed with a review of literature.

Key words: congenital joint dislocations Larsen syndrome, prenatal diagnosis

Keywords

• congenital joint dislocations Larsen syndrome, prenatal diagnosis

Eklem ve yüz anomalisi olan Larsen sendromlu bir vaka

Abstract

Larsen sendromu doğan bebeklerin 100.000’de birinde görülen nadir bir genetik hastalıktır. Prenatal tanıdan ultrasonografinin önemi vardır. Yenidoğan döneminde tipik yassı yüz şekli, eklemlerde doğuştan dislokasyonlar, spinal deformite ile karakterizedir. Otozomal dominant formu ve daha ciddi klinik formu olan otozomal resesif tipi tanımlanmıştır. Bu çalışmada Larsen sendromlu bir vaka literatürdeki vakalar araştırılarak tartışılmıştır.

Anahtar kelimeler: Konjenital eklem dislokasyonları, Larsen sendromu, Prenatal tanı

Keywords

• Konjenital eklem dislokasyonları, Larsen sendromu, Prenatal tanı

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