A 2-day-old female newborn is evaluated in the neonatal intensive care unit. Physical examination shows epicanthal folds, a flat nasal bridge, and a wide U-shaped cleft palate. She has micrognathia with 12 mm of overjet, substernal and costal retractions and desaturations while supine, and is not able to feed orally. Ophthalmologic evaluation shows bilateral cataracts. Which of the following metabolic abnormalities is most likely responsible for this patient's condition? 

A 26-year-old man sustained complete right-sided unilateral facial nerve transection and paralysis from a circular saw 3 years ago. He is now seeking surgery to improve resting symmetry and to recreate a dynamic smile. Which of the following is the most appropriate surgical procedure to achieve these results?

A 5-year-old girl has craniosynostosis, a low-set hairline, ptosis, and 4th/5th-digitsyndactyly of both hands. Genetic testing is most likely to show a mutation in which of the following genes?

A newborn has unilateral facial paralysis. The remainder of the physical examination shows no abnormalities and there is no evidence of birth trauma. Which of the following studies will most likely reveal the cause of facial nerve paralysis in this patient?

 Which of the following genetic mutations is most likely to be found in a patient with orofacial clefting and popliteal pterygium?