Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.

Noltorp, Sven; Kristoffersson, Ulf; Mandahl, Nils; Stigsson, L; Svensson, Björn; Werner, C O

doi:10.1136/ard.45.1.31

Cited by 25 publications

(21 citation statements)

References 7 publications

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“…These reports imply the presence of genes that control LCPD susceptibility. The common occurrence of LCPDlike hip changes in a few hereditary skeletal dysplasias, such as trichorhinophalangeal syndrome (OMIM 190350;Noltorp et al 1986), also implies the presence of major causal genes for LCPD.…”

Section: Introductionmentioning

confidence: 98%

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

et al. 2007

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Legg-Calvé-Perthes disease (LCPD) is a common childhood hip disorder characterized by sequential stages of involvement of the capital femoral epiphyses, including subchondral fracture, fragmentation, re-ossification and healing with residual deformity. Most cases are sporadic, but familial cases have been described, with some families having multiple affected members. Genetic factors have been implicated in the etiology of LCPD, but the causal gene has not been identified. We have located a missense mutation (p.G1170S) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation. This is the first report of a mutation in hereditary LCPD. COL2A1 mutations may be more common in LCPD patients than currently thought, particularly in familial and/or bilateral cases.

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Section: Introductionmentioning

confidence: 98%

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

et al. 2007

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“…TRFS'de kırılgan tırnaklar, lökonişi, raket tırnaklar, koilonişi ve V şekilli longitudinal tırnak Erdi Şanlı ve ark. Trikorinofalangeal sendromu distrofisi bildirilmiştir 1,5,6 . Bizim olgumuzda da kırılgan zayıf tırnaklar ve lökonişi izlendi.…”

Section: Discussionunclassified

“…Bizim olgumuzda da kırılgan zayıf tırnaklar ve lökonişi izlendi. TRFS'de görülen iskelet anomalileri falankslarda koni şekilli epifizler, gögüs ve spinal anomaliler, kalça malformasyonlarını içerir 1,7 . Kısa boy bu hastaların diğer bir karakteristik özelliğidir 3 .…”

Section: Discussionunclassified

“…Kısa boy bu hastaların diğer bir karakteristik özelliğidir 3 . Eklemlerde pertes benzeri değişiklikler görülür 1,8 . Kısa boy bu olgularda bildirilen yaygın bir özellik olmakla birlikte son bildirilerde TRFS tip 1'de kısa boy ile birlikte gecikmiş kemik yaşı, azalmış kemik mineral dansitesi ve parsiyel büyüme hormonu (GH) eksikliği bulunan olgular gösterilmiştir.…”

Section: Discussionunclassified

“…Trikorinofalangeal sendrom (TRFS) ilk olarak 1966'da Giedion tarafından tanımlanan seyrek saçlar (tricho), armut şekilli burun (rhino), brakidaktiliye (phalangeal) eşlik eden diğer iskelet anomalileri tiriadı ile karakterli otozomal dominant geçişli nadir görülen bir sendromdur 1 . TRFS tip 1'de zayıf, yavaş büyüyen saçlar, armut şekilli burun, uzun filtrum, ince üst dudak, öne doğru büyük kulaklar ve falankslarda koni şekilli epifizleri içeren iskelet anomalileri görülür.…”

Section: Introductionunclassified

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A case of Tricorhinophalangeal syndrome

Şanlı¹,

Parlak²,

Akay³

et al. 2014

TURKDERM

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Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and various skeletal abnormalities. TRPS type 1 differs from type 2 by the absence of mental retardation and exocytosis and from type 3 by the absence of shortening in generalized phalanges, metacarpals and metatarsals. Systemic symptoms, such as renal and cardiac defects, growth retardation and mental retardation may accompany TRFS. Herein, we present a 10-year-old girl who was diagnosed with TRPS type 1 accompanied by sparse, weak and slow-growing hair since birth, thinning of the lateral portion of the eyebrows, long philtrum, pear-shaped nose with a typical triangular facial appearance, camptodactyly of the finger joints, in radiological evaluation, cone-shaped epiphyses in hands and feet phalanges, and malocclusion. The patient was with normal cytogenetic, no deletion of 8q24 was detected. (Turkderm 2014; 48: 156-9)

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Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Izumi

Takagi

Parikh

et al. 2010

American J of Med Genetics Pt A

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Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.

Cited by 25 publications

References 7 publications

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

A case of Tricorhinophalangeal syndrome

Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

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