Stigmatic Facies

I (W. Wertelecki, M.D.) see brachycephaly (wide calvarium), a face that suggests a diagnosis of a syndrome. However, the visible signs in this image are insufficient since the suspected syndrome is highly variable – examination of other images and relatives is essential. The signs I see include: suggestion of a large open anterior fontanelle; downward slant of palpebral fissure; a relatively large oral opening; micrognathia; and severely underdeveloped malformed auricles (ears).

PERSPECTIVE: The diagnostic impression conveyed by this face (facies) is not only based on the above signs but a general impression that cannot be conveyed by words. Please, see the profile of this patient and other images in a gallery of related observations (Syndromes-Diagnoses).