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[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics]
M L Martínez-Frías1, E Bermejo, V Félix
1ECEMC y Departamento de Farmacología, Facultad de Medicina Universidad Complutense, Madrid.
Insights
Brachmann-de Lange syndrome, a severe genetic disorder, affects 0.97 per 100,000 live births, characterized by limb defects and craniofacial alterations. Mild forms may be diagnosed by facial features, particularly eyebrow shape.
Area of Science:
- Genetics
- Pediatrics
- Epidemiology
Context:
- Brachmann-de Lange syndrome (BDS) is a rare genetic disorder with significant clinical variability.
- Understanding its clinical and epidemiological profile is crucial for diagnosis and management.
Purpose:
- To investigate the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in a specific population.
- To estimate the prevalence and identify key clinical features within the studied cohort.
Summary:
- Analysis of 13 BDS cases from 24,696 infants with congenital defects revealed a minimum prevalence of 0.97 per 100,000 live births.
- Common manifestations include intrauterine growth retardation, limb reduction defects (predominantly upper limbs), craniofacial alterations, abnormal hair distribution, and genital defects.
- Younger parental age was noted, and differential diagnosis with Fryns' syndrome is important.
Impact:
- This study highlights the severe end of the BDS spectrum, suggesting milder forms may be more prevalent.
- Facial morphology, especially eyebrow shape, can aid in diagnosing milder cases.
- Findings contribute to a better understanding of BDS epidemiology and clinical presentation, aiding early detection and intervention.
Introduction:
We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population.
Patients And Methods:
In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996.
Results:
The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome.
Conclusions:
The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.