Neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate. In this review, multiple anomalies and physical features are discussed along with the potential associated genetic syndromes.

In this review, we aim to provide the pediatrician with a general knowledge of the approach to treating a child with a genetic syndrome associated with dysmorphic features. We will discuss the red flags, the most common manifestations, the analytic collection of the family and personal medical history, and the signs that should alert the ...

Top 10 Dysmorphic Syndromes •Keys to diagnosis/important clues –Expect variability in presentation –Be aware of heterogeneity –Low threshold for diagnosis •Management of expected issues •New advances/what’s hot

DYSMORPHOLOGY IS THE BRANCH OF CLINICAL GENETICS in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis for children with dysmorphic signs is important ...

A dysmorphic feature can be a minor and isolated birth defect (e.g., clinodactyly, not accompanied by other features or problems. Alternatively it can be one of a combination of features signaling a serious multi-system syndrome (e.g., the epicanthal folds of Down’s syndrome).

2016年8月4日 · The dysmorphic child may present as a neonate with one or more birth defects (e.g. a missing hand), or later with developmental delay or intellectual disability, failure to thrive or obesity, short or tall stature, a behavioural disturbance or a metabolic problem.

Many clues to the aetiology of dysmorphic features and malformations can be obtained from a good family and pregnancy history. Drawing up a detailed scan or of choroid plexus cysts may raise the possibility of a chromosome disorder, for example.