Dysmorphology Presentations
Overview
Presentations driven by body shape rather than mechanism: the face, head, hands, feet, limbs, stature, and skeleton. Organized by body region rather than by underlying biology so a clinician seeing "child with coarse face and short stature" has one place to start. Each entry leads with a region-specific reasoning frame, then a differential, then discriminating pearls and a work-up. Many of these patients also have metabolic or neurological findings; the body-region entry point is for "this is what I see first," not for "this is what is wrong."
Hands and feet
Polydactyly, syndactyly, limb reduction defects, arthrogryposis.
Head and face
Coarse facial features, hemifacial microsomia, craniosynostosis, hypertelorism, micrognathia, macroglossia, microtia.
Skeleton
Skeletal dysplasia (general approach), fractures with minimal trauma, hypermobile joints.
Stature and growth
Short stature, tall stature / overgrowth, hemihypertrophy / limb asymmetry, the dysmorphic newborn (general approach).