Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Table 1

Central nervous features associated with BWS.

Study	Worth et al. [9]	Yamada et al. [10]	Tubbs and Oakes [11]	Russo et al. [12]	Broekman et al. [13]	Kent et al. [14]	Bui et al. [15]	Gardiner et al. [16]	This report
Year	1999	1999	2005	2006	2008	2008	2009	2012	2014
Brain abnormalities
Abnormal cerebellar vermis	—	—	—	+^*	—	—	—	—	—
Arteriovenous malformations	—	+	—	—	—	—	—	—	—
Blake’s pouch cyst	—	—	—	—	—	—	—	2/7	—
Chiari malformation	—	—	+	—	—	—	—	—	—
Dandy-Walker malformation	—	—	—	—	—	—	—	3/7	—
Dandy-Walker variant	—	—	—	—	—	—	—	4/7	—
Encephalocele (nasal)	—	—	—	—	+	—	—	—	—
Hydrocephalus	—	—	—	—	—	+	—	—	—
Posterior fossa structures abnormalities	—	—	—	—	—	—	+	—	—
Schizencephaly	+	—	—	—	—	—	—	—	—
Meningocele	—	—	—	—	—	—	—	—	+

In this case, the associated terminal deletion of chromosome 4p may possibly explain the central nervous system malformation.