Related Experiment Videos
[Asymmetric crying facies syndrome]
L de Echániz Espejo1, J Narbona García, C García Corchón
1Departamento de Pediatría, Facultad de Medicina de la Universidad de Navarra, Pamplona.
Insights
Asymmetric crying facies, caused by congenital hypoplasia of the depressor anguli oris muscle (MDAO), is linked to other congenital malformations, especially heart defects. Diagnosis is clinical, aided by electrophysiology for differentiation from 7th nerve paralysis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Cardiology
Background:
- Asymmetric crying facies is a congenital condition.
- It results from hypoplasia of the depressor anguli oris muscle (MDAO).
- Understanding its etiology and embryology is crucial.
Observation:
- Four cases of asymmetric crying facies were analyzed.
- One case presented with multiple malformations and an abnormal karyotype (47,XX,+i(18p)).
- A high incidence of associated congenital malformations was noted.
Findings:
- Congenital MDAO agenesis occurs more frequently with other malformations (eight-fold increase).
- Specific associations include congenital heart disease, musculoskeletal, and genito-urinary defects.
- Diagnosis is primarily clinical, differentiating from 7th cranial nerve paralysis.
Implications:
- Early recognition of asymmetric crying facies is vital due to high association with other defects.
- Genetic analysis and karyotyping may be indicated in complex cases.
- Electrophysiological techniques aid in differential diagnosis, distinguishing MDAO agenesis from facial nerve palsy.
Abstract:
We report four cases with syndrome of asymmetric crying facies, analyzing particularly the etiology, embryology, and incidence of the congenital hypoplasia of depressor anguli oris muscle. In one of the cases, with multiple malformations, the patient had an abnormal karyotype, 47,XX, +i(18p). We stress the high incidence of associations with congenital malformations (eight fold the general population) and more specifically with congenital heart disease, musculoskeletal, and genito-urinary defects. The diagnosis of MDAO agenesis is basically clinic, being as differential diagnosis the paralysis of the 7th cranial nerve, defining it with electrophysiological techniques.