The Short List: Ruling Out the Big Cleft Syndromes
Take the reading one piece at a time. For each piece: read it once, underline the sentence that says what happens, then look up any word in the list. Tap a word to see its definition.
Piece 1 of 2
Four syndromes are high-yield because they are common, dangerous, or both, each with a signature red flag (built from the syndrome comparison table). Van der Woude syndrome (the most common syndromic cleft, about 2% of cleft patients): red flag = bilateral pits or small holes in the lower lip (present in about 88% of cases), often with an affected relative; it flips recurrence risk to about 50% (autosomal dominant). 22q11.2 deletion syndrome (DiGeorge / velocardiofacial): red flag = a heart defect plus low calcium and immune problems (conotruncal cardiac defect, hypocalcemia, thymic/immune deficiency), plus prominent nasal speech; a leading cause of syndromic velopharyngeal insufficiency. Stickler syndrome: red flag = high myopia with retinal-detachment risk plus hearing loss. Pierre Robin sequence: red flag = a very small lower jaw (micrognathia) with the tongue falling back (glossoptosis) and airway trouble.
Piece 2 of 2
Mateo run against the checklist: no lower-lip pits and an unrevealing family history; heart, calcium, and immune screen all normal; no eye or ear findings flagged on the newborn exam; normal-sized jaw with no tongue-based airway obstruction and comfortable breathing. His cleft is a complete unilateral left CLP with no other anomalies. He trips none of the four red flags on inspection, but that is still an eyeball check, and a tiny chromosome deletion makes no visible mark.
Reading the Research
- Skim the title and abstract first to get the gist.
- Circle the one sentence that states the main claim.
- Box the evidence the authors give for that claim.
- Mark one sentence that confuses you, and move on.
Now put it together: In one or two sentences, say what this whole reading is telling you about Mateo. Then go back to the lesson and fill in the guided notes.