Crooked limbs

This chapter describes thalidomide embryopathy as a paradigm of exogenous malformation. Previously, 1 in 1000 newborns had a limb anomaly, dreaded by agrarian societies that valued their offspring according to their bodily fitness. During the Middle Ages, malformations were attributed to cohabitation with animals or maternal imagination. Thalidomide, produced by the German company Chemie Grünenthal, was a popular sleeping pill marketed in Germany from 1957, in Britain from 1958, and in many other countries. With a 9-month delay and until 1962, over 10,000 severely malformed infants were born worldwide, the most frequent defects being limb reductions, ear and eye anomalies, and heart malformations. The drug’s toxicity was species specific and acted from 24 to 33 days after fertilization, when many women did not yet know they were pregnant. The epidemic was the greatest disaster in the history of pharmacology, and revealed severe shortcomings in German drug legislation. In the aftermath of this catastrophe, drug laws were tightened and patient safety has improved. The price was that in European countries, it became difficult to develop new drugs for infants.

Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography

IntroductionFibular hemimelia is a congenital lower limb anomaly characterized by the partial or complete absence of the fibula. It includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia. Although rare in occurrence, it is the most common congenital absence of long bone of the extremities 1.

HUBUNGAN UKURAN DEFEK OMPHALOCELE TERHADAP KELAINAN KONGENITAL PENYERTA

Background: Omphalocele is often associated with the presence of other congenital anomalies. One study says that a small of defect omphalocele is often accompanied by intestinal disorders and have a better prognosis. Based on this study the researcher wants to review the relationship between the size of omphalocele defect and the presence of associated congenital anomaly in Hasan Sadikin Hospital. Methods: This is a retrospective cross-sectional study. All patient with omphalocele between January 2007 – March 2012 were included in this study. Data collected were patient demographics, size of omphalocele defect and congenital anomalies identified. In this study, patients were designated as those with small (4 cm and less) or large (greater than 4 cm) defect omphaloceles. This study analyzed correlation between size of defect with associated anomaly using Fisher exact test and p < 0.05 is considered to be significant. Results: There were 52 omphalocele cases (24 girls, 28 boys), median birth weight 2710gr (range 1300gr–4000gr). Twenty seven patients were classified as small defect, with 25 classified as large defect. Anomaly found in the small defect groups consists of facial anomaly (7%); cardiac anomaly (7%); intestinal disorder (22%,P=0,02) include patent omphalomesentericus duct, anorectal malformation and cloaca extrophi; limb anomaly (7%). Meanwhile, anomalies identified in the large defect group consist of facial anomaly (8%); cardac defect (32%) include dextrocardi and tetralogi Fallot; limb anomaly (16%).In this study, cardiac defects was significantly higher in the large defect group, meanwhile intestinal diorder is statistically significant in small defect groups. Conclusion: Small defect omphalocele correlates with an increased prevalence of associated gastrointestinal anomalies and a lower prevalence of cardiac anomalies.

Re-analysis of limb anomaly detections in three HST/STIS transit images of Europa: No evidence for plumes

&lt;p&gt;After evidence for present-day geological activity on Jupiter&amp;#8217;s moon Europa remained elusive for decades, several recent studies derived the existence of plumes on various locations. We have re-analyzed the three HST/STIS transit images in which Sparks et al. (2016) identified limb anomalies as evidence for Europa&amp;#8217;s plume activity. After reproducing the results of Sparks et al. (2016), we find that positive outliers are similarly present in the images as the negative outliers that were attributed to plume absorption. A physical explanation for the positive outliers is missing. We identify two factors that affect the significance of the measured outliers in the region above Europa&amp;#8217;s limb: The exact location of Europa on the detector and the description of the statistical fluctuations in the images. When accounting for these factors, the statistical significance of the plume candidate features is about 3 sigma or lower in the three images. The resulting positive and negative outliers are consistent with random statistical occurrence in a sample size given by the number of pixels in Europa's limb region.&lt;/p&gt;

A multidisciplinary review of triphalangeal thumb

Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.