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Twarz 8-letniego chłopca z zespołem ATR-X

Zespół ATR-X (zespół alfa talasemia-opóźnienie umysłowe o dziedziczeniu sprzężonym z chromosomem X, ang. alpha thalassaemia-mental retardation, X linked) – rzadka choroba uwarunkowana genetycznie. Chorują jedynie mężczyźni, dziedziczenie sprzężone jest z chromosomem X. Chorobę wywołują mutacje w genie ATRX.
Objawy i przebieg
Fenotyp jest bardzo zmienny. Na obraz kliniczny zespołu składają się:
• pourodzeniowe zahamowanie wzrostu
• mikrocefalia
• aplazja zatok czołowych
• hipoplazja środkowego piętra twarzy
• małe uszy, lub nisko osadzone bądź zrotowane do tyłu
• czuciowo-nerwowa utrata słuchu (rzadko)
• hiperteloryzm oczny
• zmarszczki nakątne
• niski grzbiet nosa, nos o trójkątnym kształcie
• przodopochylenie nozdrzy
• "rybie usta"
• pełne wargi
• glossoptosis
• szeroko rozstawione górne siekacze
• ubytek przegrody międzykomorowej
• przepuklina pępowinowa
• zaparcia
• refluks żołądkowo-przełykowy
• wygładzona moszna
• mikropenis
• spodziectwo
• wnętrostwo
• agenezja nerki
• wodonercze
• kifoskolioza
• półkręgi
• kolana koślawe
• klinodaktylia
• stopa końsko-szpotawa
• opóźnienie umysłowe
• hipotonia mięśniowa, później spastyczność
• drgawki (35%)
• atrofia mózgu
• łagodna niedokrwistość mikrocytowa hipochromiczna
• łagodna postać choroby związanej z hemoglobiną H (Hb H).
• Gibbons R. Alpha thalassaemia-mental retardation, X linked. Orphanet J Rare Dis. 1, 15. 2006. doi:10.1186/1750-1172-1-15. PMID 16722615.
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