Guoqing Wang ([email protected]) Zhibo Xu ([email protected]) Rui Wang ([email protected]) Mohammed Al-Hijji ([email protected]) Jacqueline Salit ([email protected]) Yael Strulovici-Barel ([email protected]) Ann Tilley ([email protected]) Jason Mezey ([email protected]) Ronald...

A soft machine composed of a composite of elastomer and fibers resists puncture from sharp objects, and continues to operate even if punctured.

STUDY QUESTION Is it time to reconsider whether oocytes affected by smooth endoplasmic reticulum aggregates (SERa) should still be destroyed? SUMMARY ANSWER At the time of writing, the literature shows that 171 apparently healthy babies have been born from SERa+ cycles amongst which 22 were from SERa+ oocytes. WHAT IS KNOWN ALREADY The SER dysmorphism has been associated with negative embry...

mitochondrial disorders (mids) may occasionaly go along with dysmorphism but hand deformities, as in the following case, have been only rarely reported. a 72 year old female with ptosis, hypoacusis, tremor, myopathy, diabetes mellitus, arterial hypertension, severe cardiac disease, pulmonary hypertension, gastric carcinoid, hepatopathy, generalised atherosclerosis, anemia, polyarthrosis, and hy...

Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.

Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature.

A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a maternal age effect.

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.