Missed diagnosis of lissencephaly after prenatal diagnosis: A case report

Lissencephaly (LIS) is a rare and serious cortical malformation characterized by a smooth or nearly smooth brain surface. With the progress of molecular genetics, platelet-activating factor acetylhydrolase brain isoform Ib is the most frequent type during the fetal period. Here, we report an infant...

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Veröffentlicht in:	Medicine (Baltimore) 2023-02, Vol.102 (7), p.e33014-e33014
Hauptverfasser:	Liu, Mengna, Liu, Xiao, Wu, Jiebin, Sha, Jing, Zhai, Jingfang, Zhang, Bei
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics Brain Clinical Case Report DNA Copy Number Variations Female Humans Infant Lissencephaly - diagnosis Lissencephaly - genetics Male Missed Diagnosis Pregnancy Prenatal Diagnosis - methods Seizures
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