Familial predisposition of thoracic outlet syndrome: does a familial syndrome exist? Report of cases and review of literature.

INTRODUCTION: Neurogenic thoracic outlet syndrome (NTOS) is caused by compression of the brachial plexus. The clinical presentation of NTOS is characterized by symptoms of pain, paresthesia, numbness or muscle weakness in the neck, arm or hand. METHODS: In this case report, five patients were diagnosed with NTOS. They all had a first degree relative with NTOS as well. CONLUSIONS: These cases show familial predisposition in thoracic outlet syndrome. Could a form of familial TOS exist?

Thoracic Outlet Syndrome: A Significant Family Genetic Phenotypic Presentation.

We report on a very rare case of diagnosis and successful surgical treatment of three young family members with a four-fold presentation of thoracic outlet syndrome. In the relevant family case, we are considering and discussing the population incidence, a possible HOX genes disorder, and a significant phenotypic presentation.

[Variation of the transverse apophysis of the 7th cervical vertebra: anatomo-radiological study of an isolated population]. / Variazioni dell'apofisi trasversa della settima vertebra cervicale: studio anatomo-radiologico su una popolazione "segregata".

The authors investigated the morphological changes in the transverse apophysis of C VII by Rx study on an isolated population. Two variations were mainly observed: the transverse mega-apophysis and the cervical rib. The authors found a remarkable incidence of variations, more than the average of the literature. Authors suppose that this results can be attributed at the geographical and economical isolation of the population and they hypothesize a genetic transmission of recessive autosomal type.

[Familial anomaly of the seventh cervical vertebra. Radio-clinic comparison in a fourteen member family]. / Atteinte familiale de C7. Confrontation radio-clinique de 14 patients.

We report a fourteen member family presenting with an anomaly of the seventh cervical vertebra. The symptoms associate pain and paresthesias, a C8-D1 syndrome or arterial manifestations. The radiologic lesions noticed are bilateral in twelve cases, either cervical ribs or apophysomegaly of the seventh vertebra's transverse process. There is no correlation between the severity of the clinical impairment and the importance of the radiologic image. We insist on the familial character rarely reported in the literature of an anomaly noticed in radiologic practice.

[A familial case of thoracic outlet syndrome. Clinical, radiological study with treatment (author's transl)]. / Un cas familial de côte cervicale. Etude clinique, radiologique et thérapeutique.

The authors report the clinical and radiological study and the treatment of a fifteen members family (the two parents and their thirteen children) affected with a thoracic outlet syndrome secondary to a cervical rib and or an apophysomegaly of the seventh cervical vertebra. On the fifteen people considered, the father being deceased has not been examined but has an evocative clinical history. The mother has a clinical impairment with a late beginning and no radiological sign. Twelve children have clinical and radiological signs, one has radiological without clinical signs. Three children underwent a surgical treatment, the others only medical treatment. There is no satisfactory correlation between the clinical features and electrical investigations (electromyography, nerve conduction studies) and radiological examinations. The semiology is vascular, neurologic or mixt. Roos test seems more reliable than that of Adson, Calb and Roth, and Saunders. Eight grand-children out of fourty have been examined. Five have clinical and radiological signs, three have casual radiological signs. The radiological impairment of this family contrasts with the normal frequency of cervical anomalies in the population which is 0,12 to 1%. The family impairment of the thoracic outlet syndrome is rarely reported.