In a family, the father has widely spaced eyes, medial eyebrow flare and deafness. One of the three children has deafness with similar facial features. The mother is normal. Which one of the following is most likely pattern of inheritance in this case?
Correct Answer: Autosomal dominant
Description: This is a case of Waardeburg syndrome characterized by hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), broad nasal root, confluent eyebrows (synophrys) which is inherited as autosomal dominant. Ref: Hereditary Hearing Loss and Its Syndromes By Robe J. Gorlin, Helga V. Toriello, 1995, Page 368.
Category:
Pediatrics
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