Literature DB >> 1093066

[Klippel-Feil syndrome and associated malformations. Comments on an unusual case].

A Rodriguez Cuartero, J Vilchez Medina, J Peláez Redondo.   

Abstract

An unusual association of Klippel-Feil syndrome and other abnormalities (Sprengel's deformity, 1st cervical and 1st dorsal spina bifida, homovertebral bone, scoliosis, plagiocephaly, basilar impression, pterygium colli, nanism, hypogenitalism, etc.) together with neurological signs of amyotrophic lateral sclerosis, in a 36-yr-old woman is reported. The clinical and radiological pictures are examined and the exterior morphology is examined. The three types of Klippel-Feil syndrome are discussed, together with the particular alterations observed in the present case: Sprengel's deformity, spina bifida, craniostenosis, basilar impression, etc.

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Year:  1975        PMID: 1093066

Source DB:  PubMed          Journal:  Minerva Med        ISSN: 0026-4806            Impact factor:   4.806


  2 in total

1.  Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?

Authors:  Koneru Lakshmi Umamaheshwar; Amit Sehrawat; Manoj K Parashar; Kshitij Mavade
Journal:  Ann Indian Acad Neurol       Date:  2013-10       Impact factor: 1.383

2.  A case report of amyotrophic lateral sclerosis in a patient with Klippel-Feil syndrome—a familial occurrence: a potential role of TGF-β signaling pathway.

Authors:  Zygmunt Jamrozik; Malgorzata Gawel; Katarzyna Szacka; Leopold Bakon
Journal:  Medicine (Baltimore)       Date:  2015-01       Impact factor: 1.889

  2 in total

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