WBR263

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Author [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1] (Reviewed by Will Gibson and Yazan Daaboul, M.D.)]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Embryology
Sub Category SubCategory::General Principles
Prompt [[Prompt::A 12-month-old girl is brought to the physician’s office with complaints of fever, vomiting, and difficulty breathing. The mother is a chronic alcoholic and had consumed alcohol excessively throughout the child’s pregnancy. Physical examination is remarkable for microcephaly, facial abnormalities, a heart murmur, and developmental delay. Which one of the following errors most likely occurred during the embryonic period?]]
Answer A AnswerA::Aplasia
Answer A Explanation AnswerAExp::Aplasia refers to the failure of an organ to develop despite the presence of primordial tissue.
Answer B AnswerB::Hypoplasia
Answer B Explanation AnswerBExp::Hypoplasia is incomplete organ development with the presence of primordial tissue.
Answer C AnswerC::Agenesis
Answer C Explanation AnswerCExp::Agenesis refers to the failure of an organ to develop due to the absence of primordial tissue.
Answer D AnswerD::Deformation
Answer D Explanation AnswerDExp::Deformation is extrinsic disruption of an organ or tissue; it occurs after the embryonic period.
Answer E AnswerE::Malformation
Answer E Explanation AnswerEExp::Alcohol exposure during pregnancy causes tissue and central nervous system malformations. The effects of alcohol in the CNS appear to be due in part to the negative effects on cell migration.
Right Answer RightAnswer::E
Explanation [[Explanation::Fetal alcohol syndrome is a leading cause of congenital malformation and intellectual disability in the United States. Newborns of mothers who consumed significant quantities of alcohol during pregnancy have an increased incidence of congenital abnormalities. These abnormalities include:
  • pre-and postnatal developmental retardation
  • microcephaly
  • holopresencephaly
  • facial abnormalities
  • limb dislocation
  • heart and lung fistulas.

The child exhibits microcephaly, facial abnormalities, both of which are tissue malformations. The patient's heart murmur is likely also caused by tissue malformation, but echocardiography would be required for confirmation. Malformation refers to the intrinsic disruption of tissue structure, and it typically occurs during the embryonic period of development (3rd -8th week). Alcohol, a teratogen, exerts its effect during this stage of fetal development. Defective cell migration is thought to mediate a substantial fraction of alcohol's teratogenicity.
Educational Objective: Fetal alcohol syndrome is caused by the teratogen alcohol which causes congenital malformations, an error in organ morphogenesis during the embryonic period (3rd – 8th weeks).
References: Riley, Edward P., M. Alejandra Infante, and Kenneth R. Warren. "Fetal alcohol spectrum disorders: an overview." Neuropsychology review 21.2 (2011): 73-80.
First Aid 2015 page 561]]

Approved Approved::Yes
Keyword WBRKeyword::EtOH, WBRKeyword::Fetal Alcohol Syndrome, WBRKeyword::FAS, WBRKeyword::Alcohol, WBRKeyword::Teratogen, WBRKeyword::Substance abuse, WBRKeyword::Embryology, WBRKeyword::Embryo, WBRKeyword::Development
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