نتایج جستجو برای: phocomelia

تعداد نتایج: 723  

2017

Objective Phocomelia is a rare congenital anomaly seen in 4 million births. Many factors play a role in the etiology of phocomelia such as environmental-genetic factors, teratogen exposure and amniotic band syndrome. Thalidomide, alcohol, cyclophosphamide and retinoic acid have also been implicated in the pathogenesis. Phocomelia may be isolated or accompanied by syndromes. We present a case of...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2011
Eva Bermejo-Sánchez Lourdes Cuevas Emmanuelle Amar Sebastiano Bianca Fabrizio Bianchi Lorenzo D Botto Mark A Canfield Eduardo E Castilla Maurizio Clementi Guido Cocchi Danielle Landau Emanuele Leoncini Zhu Li R Brian Lowry Pierpaolo Mastroiacovo Osvaldo M Mutchinick Anke Rissmann Annukka Ritvanen Gioacchino Scarano Csaba Siffel Elena Szabova María-Luisa Martínez-Frías

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,74...

2012
Priyanka Bansal Akhil Bansal Shitalmala Devi

Priyanka Bansal*, MD; Akhil Bansal, MD, and Shitalmala Devi, MD Jawaharlal Nehru Medical College, Department of Pathology, India Received: Jan 29, 2011; Accepted: Mar 24, 2012 Phocomelia, ie the absence or severe hypoplasia of the long tubular bones with more or less intact hands and or feet, is widely known to be the most spectacular finding of thalidomide embryopathy[1]. It may be complete in...

Journal: :acta medica iranica 0
m. pourissa s. refahi n. garaaghagi

the robert/sc (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. an anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. ultrasonographic finding...

Journal: :International journal of basic and clinical pharmacology 2023

Phocomelia is an extremely rare congenital anomaly which presents as, the proximal part of limb (humerus or femur, radius tibia, ulna fibula) being absent markedly hypoplastic, with normal near hand foot. True phocomelia as total absence intermediate segments limb, foot directly attached to trunk. Presented here a case in aborted foetus, no maternal history thalidomide exposure her pregnancy an...

2013
Samuel N. Blacker Tiffany E. Angelo

The teratogenicity of thalidomide has been known since the early 1960s [1]. Thalidomide is currently used world wide, including the United States, to treat erythema nodosum leprosum, multiple myeloma, refractory Crohn’s disease, aphthous stomatitis and HIV wasting syndrome. New cases of thalidomide phocomelia are being reported as well. We report a case of the anesthetic challenges of a 23 year...

2011
Captain Rasto Osadsky

While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proxim...

Journal: :International Journal of Reproduction, Contraception, Obstetrics and Gynecology 2020

Journal: :Translational Biomedicine 2016

Journal: :Archives of disease in childhood 1964
T KAJII K OIKAWA K ITAKURA T OHSAWA

During a survey of thalidomide embryopathy (Kajii and Shinohara, 1963), an infant with a peculiar combination of malformations was found among the 150 cases of the syndrome. This infant exhibited phocomelia of the left arm which resembled closely that of thalidomide embryopathy, but in addition showed most of the features characteristic of the 17-18 trisomy syndrome. In the 17-18 trisomy syndro...

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