Case Reports in Obstetrics and Gynecology / 2015 / Article / Tab 1

Case Report

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 featuresType of prenatal diagnosisDelivery gestational age and birth weight Additional postnatal phenotypical findings

Patton et al., 1986 [17](i) Hydrops
(ii) Polyhydramnios
Ultrasonography37 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
II trimester
(i) Posteriorly rotated low-set ears
(ii) Imperforate anus

Cho et al., 2006 [19]NACytogenetic analysisTOP
I trimester

Tajima et al., 2010 [18](i) Polyhydramnios
(ii) Cleft lip
Ultrasonography35 weeks
2076 g
(i) Hypertelorism
(ii) Cleft palate
(iii) Hypospadias
(iv) Dysphagia

Cheng et al., 2014 [1](i) Congenital heart disease Ultrasonography + cytogenetic analysisTOP
II trimester
(i) Absence of the corpus callosum

TOP: termination of pregnancy.
NA: not available.

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