Anomalies 3 - Facial cleft & Other mutations

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4 Terms

1
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Ankyloglossia - Tongue tie

Unusually short, thick lingual frenulum, a membrane that connects the underside of the tongue to the floor of the mouth. Restricts tongue movement.

2
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Bifid tongue

Bifid Tongue is a condition where the tongue is split or has a cleft, as seen in a case by Aaron et al., 2007.

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DiGeorge Syndrome (Velo-Cardio-Facial Syndrome)

  • 22q11.2 deletion syndrome

  • Learning disabilities.

  • Cardiac abnormalities (e.g., interrupted aortic arch, truncus arteriosus, tetralogy of Fallot).

  • Abnormal facial features.

  • Thymic aplasia.

  • Cleft palate.

  • Hypocalcemia and Hypoparathyroidism.

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Shprintzen (Velo-Cardio-Facial Syndrome)

Involves cleft palate, cardiac anomalies, typical facial features, and learning disabilities.