The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

Table 1

List of reported cases of prenatally detected maternally inherited Opitz syndrome (modified from Cheng et al., 2014 [1]).

	Prenatal ultrasonographic features	Type of prenatal diagnosis	Delivery gestational age and birth weight	Additional postnatal phenotypical findings
Patton et al., 1986 [17]	(i) Hydrops; (ii) Polyhydramnios	Ultrasonography	37 weeks; 3012 g	(i) Posteriorly rotated ears; (ii) Loose skin folds in neck; (iii) Inguinal hernia; (iv) Anteriorly placed anus
Hogdall et al., 1989 [16]	(i) Hypertelorism; (ii) Enlarged cisterna magna	Ultrasonography	TOP; II trimester	(i) Posteriorly rotated low-set ears; (ii) Imperforate anus
Cho et al., 2006 [19]	NA	Cytogenetic analysis	TOP; I trimester	NA
Tajima et al., 2010 [18]	(i) Polyhydramnios; (ii) Cleft lip	Ultrasonography	35 weeks; 2076 g	(i) Hypertelorism; (ii) Cleft palate; (iii) Hypospadias; (iv) Dysphagia
Cheng et al., 2014 [1]	(i) Congenital heart disease	Ultrasonography + cytogenetic analysis	TOP; II trimester	(i) Absence of the corpus callosum

TOP: termination of pregnancy.
NA: not available.