A small-for-gestational-age infant is born prematurely to a 38-year-old woman who had inconsistent prenatal care. Physical examination shows a small head and eyes as well as a cleft lip and palate. There is a small, round punched-out lesion with an overlying thin membrane on the patient's scalp. A small, membranous sac with a loop of bowel protrudes from the patient's abdominal midline. The infant is transferred to the neonatal intensive care unit for further workup and management. Which of the following is most likely responsible for this patient's condition?

Question

A small-for-gestational-age infant is born prematurely to a 38-year-old woman who had inconsistent prenatal care.  Physical examination shows a small head and eyes as well as a cleft lip and palate.  There is a small, round punched-out lesion with an overlying thin membrane on the patient's scalp.  A small, membranous sac with a loop of bowel protrudes from the patient's abdominal midline.  The infant is transferred to the neonatal intensive care unit for further workup and management.  Which of the following is most likely responsible for this patient's condition?

Quizplus · Accepted Answer

Eductional Objective: Patau syndrome (trisomy 13) usually occurs secondary to meiotic nondisjunction in mothers of advanced maternal age.  Key physical findings reflect defective prechordal mesoderm fusion resulting in midline defects (eg, holoprosencephaly, microphthalmia, cleft lip/palate, omphalocele) as well as polydactyly and cutis aplasia.

A Small-For-Gestational-Age Infant Is Born Prematurely to a 38-Year-Old Woman