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[Asymmetric crying facies syndrome: report of 16 clinical cases]
J Peña1, N E León-C, M Martínez
1Cátedra de Clínica Pediátrica, Hospital Universitario, Maracaibo, Venezuela.
Insights
Asymmetric crying facies (ACF) in children often presents with congenital anomalies and neurological disorders. This study suggests a possible autosomal dominant inheritance pattern for ACF, with some cases being sporadic.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Congenital Disorders
Context:
- Asymmetric crying facies (ACF) is a form of congenital facial palsy in childhood.
- Understanding the associated conditions and inheritance patterns of ACF is crucial for diagnosis and management.
- This study examines clinical characteristics and associated disorders in pediatric patients with ACF.
Purpose:
- To report the clinical characteristics, congenital anomalies, and associated disorders in sixteen patients with Asymmetric Crying Facies.
- To investigate the potential inheritance patterns of ACF.
- To identify rare associations with ACF, such as diaphragmatic hernia and hyperkinesia.
Summary:
- Sixteen pediatric patients with ACF were analyzed for clinical features, congenital anomalies, and neurological disorders.
- Congenital anomalies and/or neurological disorders were found in 43.75% of patients.
- Diaphragmatic hernia and hyperkinesia were identified as rare associations. Autosomal dominant inheritance with reduced penetrance was suggested in some families, while others were sporadic.
Impact:
- This research highlights the significant co-occurrence of congenital anomalies and neurological disorders in ACF patients.
- The identification of rare associations like diaphragmatic hernia and hyperkinesia expands the known spectrum of ACF.
- The study contributes to understanding the genetic basis of ACF, suggesting potential inheritance patterns that can inform genetic counseling and further research.
Abstract:
The Asymmetric Crying Facies (ACF) is included among the congenital facial palsy in childhood. We report the clinical characteristics, congenital anomalies and other associated disorders in sixteen patients with ACF examined from 1984 to 1995 in the pediatric units of the Hospital Adolfo Pons, Universitario and Clínico of Maracaibo, Venezuela. Statistically the side of lesion and the sex were independent. In seven of sixteen patients (43.75%) we found congenital anomalies and/or neurological disorders, being diaphragmatic hernia and the hyperkinesia a rare association no reported up to now in the reviewed literature. We suggest autosomal dominant inheritance with reduced penetrance in three of sixteen families. The other patients were sporadic cases.