A 23-year old Caucasian primipara gives birth to a full-term, female infant who has an isolated cleft lip. The mother says that her brother had a cleft lip and cleft palate which were surgically corrected. Her prenatal course was uncomplicated. She did not take any medications except multivitamins during the pregnancy. She does not smoke or consume alcohol. Careful inspection reveals an upper lip pit in the mother. Which of the following is the best statement concerning the infant's condition?

Question

A 23-year old Caucasian primipara gives birth to a full-term, female infant who has an isolated cleft lip. The mother says that her brother had a cleft lip and cleft palate which were surgically corrected. Her prenatal course was uncomplicated. She did not take any medications except multivitamins during the pregnancy. She does not smoke or consume alcohol. Careful inspection reveals an upper lip pit in the mother. Which of the following is the best statement concerning the infant's condition?

Quizplus · Accepted Answer

Explanation: Cleft lip with or without cleft palate is typically a multifactorial disorder. It has been associated with the use of teratogenic agents (commonly alcohol) during pregnancy. A careful and thorough history is important in making the correct diagnosis. Reconstruction of the cleft lip is generally performed at approximately three months of age, according to the rule of '10:' 10 lbs of weight, 10 weeks of age, and 10 g of hemoglobin. (Choices A and B) The modes of inheritance can be autosomal dominant, autosomal recessive, and X-linked. This family seems to have an autosomal dominant inheritance, called Van der Woude syndrome, with variable expressivity because the mother has a very limited expression of the disease - an upper lip pit. (Choice C)The recurrence risk in the following pregnancies is close to 50%. (Choice E)Associated cardiac and renal abnormalities are not common. Educational Objective: Cleft lip with or without cleft palate is typically a multifactorial disorder. It has been associated with the use of teratogenic agents during pregnancy, and the modes of inheritance can be autosomal dominant, autosomal recessive, and X-linked. Reconstruction of the cleft lip is generally performed at approximately three months of age, according to the rule of '10:' 10 lbs of weight, 10 weeks of age, and 10 g of hemoglobin.

A 23-Year Old Caucasian Primipara Gives Birth to a Full-Term, Female