Craniorachischisis Totalis with Congenital Diaphragmatic Hernia—A Rare Presentation of Fryns Syndrome

ABSTRACT

Fryns syndrome is a multiple congenital anomaly syndrome with an autosomal recessive inheritance. Here we describe the autopsy case findings of a 19-week male fetus, born out of a consanguineous marriage. The dissection revealed left-sided diaphragmatic hernia, resulting in pulmonary hypoplasia and shift of heart to the right side. In addition, anencephaly and spina bifida throughout the vertebral column were observed. All six criteria for Fryns syndrome were met. Such a presentation of Fryns syndrome associated with Craniorachischisis Totalis has not been reported so far. We have also tabulated the overlapping features of some multiple congenital anomaly syndromes that need to be distinguished at autopsy for an accurate diagnosis.

KEYWORDS:

• Craniorachischisis Totalis
• congenital diaphragmatic hernia
• Fryns Syndrome
• neural tube defects
• pulmonary hypoplasia

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.