Search results for "Klippel"

Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature

2015

Introduction: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described. Case presentation: We report the case of a 72-year-old white man with a 2-year history of gait and balance di…

Giant uterus in a patient with Klippel-Trenaunay syndrome. Report of a case

2022

Introduction: Klippel-Trenaunay syndrome is an uncommon congenital disease also called angio-osteodystrophy syndrome for its typical disorders characterized by abnormal growth of the soft tissues and bones and vascular malformations. Case report: In this report, we present a rare case of a 46-year-old nulliparous woman with Klippel-Trenaunay syndrome. She suffered from an abnormal uterine bleeding accompanied by severe anemia with need for multiple blood transfusions. At the time of admission, physical examination revealed port-wine stains and varicose veins on her lower limbs and hypertrophy of left lower extremity. We carried out an open bilateral hysteroannexectomy. Histopathology examin…

Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

1990

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…

Epulis granulomatosa as an oral manifestation of Klippel-Trénaunay syndrome

2006

The Klippel-Trenaunay syndrome (KTS) was first described by Klippel and Trenaunay in 1900. It is characterized by the triad of hemihypertrophy of soft and hard tissue, naevus flammeus and venous varicosity in the affected area. Though all oral tissues may be affected, only 5% of KTS show manifestations in the head and neck region. Only three cases are described with an oral manifestation, showing gingival overgrowth clinically and histologically corresponding to a pyogenic granuloma. It is still uncertain whether the combination of gingival fibromatosis and KTS is significant or coincidental. We report about a 25-year-old patient with KTS and recidivous gingival fibromatosis, clinically and…

Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

2022

IntroductionKlippel–Trenaunay syndrome (KTS) is a rare vascular congenital disorder characterized by the classical triad of port-wine stains, abnormal growth of soft tissues and bones, and vascular malformations. The involvement of the genitourinary tract and of the uterus in particular is extremely infrequent but relevant for possible consequences.MethodsWe performed an extensive review of the literature using the Pubmed, Scopus and ISI web of knowledge database to identify all cases of KTS with uterine involvement. The search was done using the MeSH term “Klippel–Trenaunay syndrome” AND “uterine” OR “uterus.” We considered publications only in the English language with no limits of time. …

Congenital cervical vertebrae clefts in Klippel-Feil syndrome

2015