An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussio...

As a consequence of the increasing power and decreasing cost of digital computers, dysmorphologists have begun to explore a wide variety of computerised applications in clinical genetics. Of considerable interest are developments in the areas of syndrome databases, expert systems, literature searches, image processing, and pattern recognition. Each of these areas is reviewed from the perspectiv...

Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in...

There are over 2,500 identifiable dysmorphic conditions, which individually are rare but together form a significant proportion of referrals to a genetic service. The rarity of these diseases means that even in Centres of Expertise established in many EU countries, experience can be limited, resulting in delay or uncertainty of diagnosis. To improve diagnosis of dysmorphic syndromes across the ...

Although cytoplasmic dysmorphology of oocytes affects clinical outcomes, the relationship between zona pellucida (ZP) observed during ICSI and outcomes is still unclear. In this study, we aimed to clarify implications dysmorphologies ZP. We studied 3758 non-donor cycles who underwent oocyte retrieval at our private fertility center January 2018 September 2020. ZP included ellipsoid shape, parti...

Disruption of the Hedgehog signaling pathway has been implicated as an important molecular mechanism in the pathogenesis of fetal alcohol syndrome. In severe cases, the abnormalities of the face and brain that result from prenatal ethanol exposure fall within the spectrum of holoprosencephaly. Single allele mutations in the Hh pathway genes Sonic Hedgehog (SHH) and GLI2 cause holoprosencephaly ...