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[Dysmorphic syndromes at birth: what to do?]
1Unité fonctionnelle de génétique clinique, hôpital Robert-Debré, 48, boulevard sérurier, 75019 Paris, France. clarisse.baumann@rdb.ap-hop-paris.fr
Insights
Diagnosing dysmorphic syndromes in newborns requires a systematic approach, including family and perinatal history, physical exams, and targeted tests. Some diagnoses may need long-term follow-up for accurate etiological identification.
Area of Science:
- Medical Genetics
- Pediatrics
- Clinical Diagnostics
Context:
- Congenital anomalies affect approximately 3% of newborns, necessitating prompt pediatric evaluation.
- Dysmorphic syndromes present diagnostic challenges at birth, requiring a structured assessment.
- Accurate diagnosis is crucial for appropriate management and genetic counseling.
Purpose:
- To outline a systematic, four-step diagnostic approach for dysmorphic syndromes in newborns.
- To emphasize the importance of integrating various data points for syndrome identification.
- To highlight the potential need for ongoing follow-up in complex etiological diagnoses.
Summary:
- A four-step evaluation is proposed: family history, perinatal history, physical examination focusing on morphological anomalies, and targeted investigations (imaging, lab, cytogenetics).
- Syndrome diagnosis often results from combining information from these steps.
- Etiological diagnosis can be challenging at birth, sometimes requiring longitudinal monitoring of evolving clinical signs.
Impact:
- Facilitates earlier and more accurate diagnosis of congenital anomalies in neonates.
- Provides a framework for pediatricians managing infants with suspected dysmorphic syndromes.
- Improves understanding of the diagnostic process for rare malformation syndromes.
Abstract:
Approximately 3% of newborn infants present with minor or major defects for which the pediatrician's advice is required. The diagnosis approach of a dysmorphic syndrome at birth relies upon a systematic four-step evaluations including: 1) family history; 2) information on the perinatal history; 3) complete physical examination with careful description of the morphological anomalies; 4) oriented imaging, laboratory and/or cytogenetic investigations. In many cases the regrouping of the different information will lead to the diagnosis of a precise malformation syndrome. However the etiological diagnosis may also be difficult at birth and will necessitate a regular follow up in order to take into account the evolution of the defects and the occurrence of additional clinical signs.