Trichorhinophalangeal sendrom II

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