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- Title
The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
- Authors
Ciancia, Silvia; Madeo, Simona Filomena; Calabrese, Olga; Iughetti, Lorenzo
- Abstract
The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their early recognition is a challenge for the pediatrician, who will be also involved in the follow-up of these children, often establishing a close relationship with them and their families and becoming a referral figure. 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 pediatrician during the physical examination. We will offer an overview of the physical malformations most commonly associated with genetic defects and the way to describe dysmorphic facial features. We will provide hints about some tools that can support the pediatrician in clinical practice and that also represent a useful educational resource, either online or through apps downloaded on a smartphone. Eventually, we will offer an overview of genetic testing, the ethical considerations, the consequences of incidental findings, and the main indications and limitations of the principal technologies.
- Subjects
MEDICAL history taking; PHYSICAL diagnosis; OCCUPATIONAL roles; HUMAN abnormalities; BODY dysmorphic disorder; X-linked intellectual disabilities; FAMILY history (Medicine); INFORMATION technology; INFORMATION resources; GENETIC counseling; GENETIC variation; PROFESSIONS; DEVELOPMENTAL disabilities; GENETIC disorders; GENETIC mutation; GENETIC testing; GENETICS
- Publication
Children, 2024, Vol 11, Issue 5, p578
- ISSN
2227-9067
- Publication type
Article
- DOI
10.3390/children11050578