Öz
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
Anahtar Kelimeler
congenital joint dislocations Larsen syndrome prenatal diagnosis
Kaynakça
- Larsen LJ, Schottstaedt ER,Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 10950; 37: 574-81.
- Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet 2007; 44: 89-98.
- Stevenson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen's syndrome.. Anesthesiology 1991; 75: 142-4.
- Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics 1983; 71: 942-6.
- Al-Kaissi A, Ammar C, Ben Ghachem MB, Hammou A, Chehida FB. Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. Swiss Med Wkly 2003; 133: 625-8.
- Al Kaissi A, Altenhuber J, Grill F, Klaushofer K. Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature cases J 2009; 17: 6729.
- Stanley CS, Thelin JW, Miles JH. Mixed hearing loss in Larsen syndrome. Clin Genet 1988; 33: 395-8.
- Pierquin G, Van Regemorter N, Hayez-Delatte et al. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet 1991; 87: 587-91.
- Babat LB, Ehrlich MG. A paradigm for the age-related treatment of knee dislocations in Larsen's syndrome. J Pediatr Orthop 2000; 20: 396-401.
- Benacerraf BR. Ultrasound of fetal syndromes. New York, Churchill Livingstone, 1998; 150-151.
- Tongsong T, Wanapirak C, Pongsatha S, Sudasana J. Prenatal sonographic diagnosis of Larsen syndrome. J Ultrasound Med 2000; 19: 419-21.
- Mostello D, Hoechstetter L, Bendo RW, et al. Prenatal diagnosis of recurrent Larsen syndrome further definition a lethal variant. Prenat Diagn 1991; 11: 215-25.
- Le Marec B, Chapuis M, Treguier C, Odent S, Bracq H. A case of Larsen syndrome with severe cervical malformations. Genet Couns 1994; 5: 179-81.
- Liang CD, Hang CL. Elongation of the aorta and multiple cardiovascular abnormalities associated with Larsen syndrome. Pediatr Cardiol. 2001; 22: 245-6.
- Stevenson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen's syndrome. Anesthesiology 1991; 75: 142-4.
Öz
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
Anahtar Kelimeler
Konjenital eklem dislokasyonları Larsen sendromu Prenatal tanı
Kaynakça
- Larsen LJ, Schottstaedt ER,Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 10950; 37: 574-81.
- Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet 2007; 44: 89-98.
- Stevenson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen's syndrome.. Anesthesiology 1991; 75: 142-4.
- Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics 1983; 71: 942-6.
- Al-Kaissi A, Ammar C, Ben Ghachem MB, Hammou A, Chehida FB. Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family. Swiss Med Wkly 2003; 133: 625-8.
- Al Kaissi A, Altenhuber J, Grill F, Klaushofer K. Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature cases J 2009; 17: 6729.
- Stanley CS, Thelin JW, Miles JH. Mixed hearing loss in Larsen syndrome. Clin Genet 1988; 33: 395-8.
- Pierquin G, Van Regemorter N, Hayez-Delatte et al. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet 1991; 87: 587-91.
- Babat LB, Ehrlich MG. A paradigm for the age-related treatment of knee dislocations in Larsen's syndrome. J Pediatr Orthop 2000; 20: 396-401.
- Benacerraf BR. Ultrasound of fetal syndromes. New York, Churchill Livingstone, 1998; 150-151.
- Tongsong T, Wanapirak C, Pongsatha S, Sudasana J. Prenatal sonographic diagnosis of Larsen syndrome. J Ultrasound Med 2000; 19: 419-21.
- Mostello D, Hoechstetter L, Bendo RW, et al. Prenatal diagnosis of recurrent Larsen syndrome further definition a lethal variant. Prenat Diagn 1991; 11: 215-25.
- Le Marec B, Chapuis M, Treguier C, Odent S, Bracq H. A case of Larsen syndrome with severe cervical malformations. Genet Couns 1994; 5: 179-81.
- Liang CD, Hang CL. Elongation of the aorta and multiple cardiovascular abnormalities associated with Larsen syndrome. Pediatr Cardiol. 2001; 22: 245-6.
- Stevenson GW, Hall SC, Palmieri J. Anesthetic considerations for patients with Larsen's syndrome. Anesthesiology 1991; 75: 142-4.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Eylül 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 6 Sayı: 2 |
Kaynak Göster
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