Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

There is considerable ambiguity in the use of terminology when referring to orofacial clefts
(OFCs). Many clinicians incorrectly refer to OFCs as deformities, which are said to be the …

Robinson PN, Mundlos S. The Human Phenotype Ontology. A standardized, controlled
vocabulary allows phenotypic information to be described in an unambiguous fashion in …

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing
the scope of practice for clinical geneticists. Many large institutions are making a significant …

An international group of clinicians working in the field of dysmorphology has established a
process for the standardization of terms used to describe human morphology. The goals are …

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of
cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI …

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 …

The use of a standardized terminology in the medical sciences is essential for both clinical
practice and scientific research. In addition to facilitating communication between …

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim
of the present study was to evaluate the ability to interpret facial morphology in African …

An international group of clinicians and scientists working in the field of dysmorphology has
initiated the standardization of terms used to describe human morphology. The goals are to …