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Trichorhinophalangeal sendrom II (Langer-Giedion sendromu)

Kalıtsal - AD

Gelişme geriliği

Mikrosefali

Saçlar seyrek

Kaşlar kalın

Gözler çukurda

Strabismus

Kulak kepçesi iri

İşitme sorunları

Burun büyük

Filtrum uzun-derin

Dudaklar ince

Süpernümerer dişler

Maloklüzyon

Multipl osteokendromlar (skapula, bilekler, dizler)

Skolyoz

Osteopeni

Patolojik kırıklar

Hipermobil eklemler

Parmaklarda anomaliler

Deride nevuslar

Hipotoni

Zeka geriliği

  • Giedion A, Burdea M, Fruchter Z, et al. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helvetica Paediatrica Acta, 28:249–259, 1973

  • Hall BD, Langer LO, Giedion A, et al. Langer-Giedion syndrome. Birth Defects Original Article Series, 10:147–164, 1974

  • Lüdecke H-J, Schmidt O, Nardmann J, et al. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Human Genetics, 105:619–628, 1999

  • Riedl S, Giedion A, Schweitzer K, et al. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. American Journal of Medical Genetics A, 131(2):200-203, 2004

  • Schinzel A, Riegel M, Baumer A, et al. Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics A, 161A(9):2216-2225, 2013

  • Maas SM, Shaw AC, Bikker H, et al. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European Journal of Medical Genetics, 58(5):279-292, 2015