Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

  • Cho, Hyun Chul (Department of Pediatrics, Inje University Ilsan Paik Hospital, Inje University College of Medicine) ;
  • Hwang, Jong Hee (Department of Pediatrics, Inje University Ilsan Paik Hospital, Inje University College of Medicine)
  • Received : 2020.09.18
  • Accepted : 2020.10.28
  • Published : 2021.02.28
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Abstract

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

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References

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