نتایج جستجو برای: rib polydactyly syndrome

تعداد نتایج: 631580  

2013
James Demetrious

A case of a first rib fracture and Horner's syndrome due to a motor vehicle collision is reported. Initial evaluation in a hospital emergency department and follow-up by a medical primary care physician failed to provide identification of the Horner’s syndrome. Careful assessment and review of the patient’s symptoms, signs and images revealed this uncommon and important neurologic case presenta...

Journal: :Herpetozoa 2022

The anomaly P is a widespread morphological anomaly, which occurs in some groups of amphibians, caused by the trematode parasite Strigea robusta (Digenea: Strigeidae). This has been previously recorded water frogs genus Pelophylax and toads genera Bufo Bufotes . includes symmetrical polydactyly cases as mild attenuated form complex syndrome, severe strong deformations hindlimbs forelimbs. 3-hos...

Journal: :Gut 1994
G E Feurle

Painful rib syndrome EDITOR,-The painful rib syndrome recently described by Scott and Scott is, in my opinion, a misnomer. Over the years I have seen numerous cases similar to the ones they report, and have found that the tender spots they allude to are not in the ribs but in the muscles. They are, in fact, myofascial trigger points. Pain develops because of trauma induced activation ofnocicept...

Journal: :Human molecular genetics 2005
Melissa A Fath Robert F Mullins Charles Searby Darryl Y Nishimura Jun Wei Kamal Rahmouni Roger E Davis Marwan K Tayeh Michael Andrews Baoli Yang Curt D Sigmund Edwin M Stone Val C Sheffield

McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia. Mutations in the MKKS gene have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormal...

2017
Sofoklis Mitsos Davide Patrini Sara Velo Achilleas Antonopoulos Martin Hayward Robert S George David Lawrence Nikolaos Panagiotopoulos

Thoracic outlet syndrome (TOS) is a constellation of signs and symptoms caused by compression of the neurovascular structures in the thoracic outlet. TOS may be classified as either neurogenic TOS (NTOS) or vascular TOS: venous TOS (VTOS) or arterial TOS (ATOS), depending on the specific structure being affected. The basis for the surgical treatment of TOS is resection of the first rib, and it ...

Journal: :Human molecular genetics 2012
Alyson Ashe Natalie C Butterfield Liam Town Andrew D Courtney Ashley N Cooper Charles Ferguson Rachael Barry Fredrik Olsson Karel F Liem Robert G Parton Brandon J Wainwright Kathryn V Anderson Emma Whitelaw Carol Wicking

Mutations in components of the intraflagellar transport (IFT) machinery required for assembly and function of the primary cilium cause a subset of human ciliopathies characterized primarily by skeletal dysplasia. Recently, mutations in the IFT-A gene IFT144 have been described in patients with Sensenbrenner and Jeune syndromes, which are associated with short ribs and limbs, polydactyly and cra...

2012
Andrea Poretti Giuseppina Vitiello Raoul CM Hennekam Filippo Arrigoni Enrico Bertini Renato Borgatti Francesco Brancati Stefano D'Arrigo Francesca Faravelli Lucio Giordano Thierry AGM Huisman Miriam Iannicelli Gerhard Kluger Marten Kyllerman Magnus Landgren Melissa M Lees Lorenzo Pinelli Romina Romaniello Ianina Scheer Christoph E Schwarz Ronen Spiegel Daniel Tibussek Enza Maria Valente Eugen Boltshauser

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of ...

Journal: :Archives of pathology & laboratory medicine 2005
Deven Scurlock Daniel Ostler Andy Nguyen Amer Wahed

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hemat...

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