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Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature

Journal

NEUROLOGICAL SCIENCES
Volume 44, Issue 4, Pages 1207-1210

Publisher

SPRINGER-VERLAG ITALIA SRL
DOI: 10.1007/s10072-022-06534-6

Keywords

Asymmetric crying facies; Cayler syndrome; Depressor anguli oris muscle; Facial palsy

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Facial asymmetry is a result of agenesis or hypoplasia of the muscle of one of the labial commissures, and it may be associated with congenital disorders such as heart, skeletal, or renal malformations. The exact causes of this developmental disorder are not fully understood, but genetic factors may play a role. Understanding this disorder is highly relevant for adult neurologists to differentiate it from facial palsy and to screen for other congenital disorders.
BackgroundFacial asymmetry when crying at birth (then called asymmetric crying facies or ACF) or when smiling or speaking loudly in adulthood is the consequence of the agenesis or hypoplasia of the muscle of one of the labial commissures. This developmental disorder of complex mechanism is well known by pediatricians to be a warning sign for underlying developmental disorders of variable severity.Case reportAn 80-year-old man with medical history of renal agenesis was hospitalized for a transient motor deficit of the right face and arm revealing a lacunar stroke. Clinical examination showed an isolated left facial asymmetry upon smiling or talking out loud which had been known since childhood and was not related to the stroke, leading to the diagnosis of ACF. Cardiac ultrasound revealed a patent foramen. Chromosomal investigations could not be performed.Discussion and conclusionACF is a rare disorder that may conceal associated congenital disorders such as heart, skeletal, or renal malformations. Its causing mechanisms are to this day still poorly understood but may include a genetic component as shown by familial cases and the identification of 22q11.2 deletions or trisomy 18 in some patients. Knowledge of this disorder seems highly relevant for adult neurologists, first because of the differential diagnosis with facial palsy, but mostly because it will allow them to screen patients for other congenital disorders such as heart malformations. Conversely, cardiologists and cardiac surgeon may search for an ACF when faced with a patient with a congruent heart defect.

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