Prenatal Sonographic Features of Miller-Dieker Syndrome

Abstract

KEY WORDS17p13.3 deletion, lissencephaly, Miller-Dieker syndrome, prenatal ultrasound Miller-Dieker syndrome (MDS) is a contiguous gene deletion disorder involving genes on chromosome 17p13.3. Clinical manifestations include central nervous system (CNS) anomalies (mainly Type I lissencephaly), facial dysmorphism, growth restriction, profound mental retardation, seizure, and extracranial anomalies. The affected individuals often die in infancy or early childhood. Owing to the poor prognosis of MDS, early diagnosis of fetuses with MDS is important. Currently, ultrasound is regarded as a useful tool in prenatal detection of MDS, in addition to fetal magnetic resonance imaging. This article provides an overview of the reported prenatal sonographic features of MDS, including CNS anomalies (ventriculomegaly, agyria or lissencephaly, abnormal sylvian fissures, agenesis or dysgenesis of corpus callosum, and microcephaly), intrauterine growth restriction, polyhydramnios, cardiac anomalies, omphalocele, facial anomalies, and rare anomalies. Several diseases may have phenotypic overlaps with MDS, including Type I lissencephaly (Lissencephaly 1, Lissencephaly 2, and X-linked lissencephaly) and Type II lissencephaly. Increasing the awareness and knowledge of fetal structural anomalies associated with MDS on prenatal ultrasound will be helpful in the early detection, thus allowing appropriate genetic counseling and optimize clinical management. ª

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

“…In a study by Chen et al it was concluded that in foetuses with Miller-Diecker Lissencephaly syndrome, the main abnormal ultrasound feature is central nervous system anomalies. 23 They confirmed this syndrome by Single nucleotide polymorphism analysis in two foetuses. Cystic hygroma with meningocele in foetus 2, would indicate pterygium syndrome, Knobloch syndrome and Joubert syndrome.…”

Prenatal diagnosis of lissencephaly: A case report

“…When the disorder occurs in connection with other malformations such as cardiac defects, genital abnormalities and characteristic facies, the Miller-Dieker syndrome may be present. In many cases there is a deletion of the short arm of chromosome 17 and genetic testing is important to diagnose it 31 .…”

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

“…6 MDS has been associated with other malformations such as congenital heart disease (PDA and ventricular septal defect), genitourinary anomalies (renal anomalies, cryptorchidism, inguinal hernia), gastrointestinal (GI) tract anomalies (duodenal atresia, omphalocele), limbs defects (contractures, polydactyly/syndactyly/clinodactyly), and ear anomalies. 7 Literature search of MDS did not identify a reported association with any congenital pulmonary disorders. However, a case has been reported of congenital cystic adenomatoid malformation of the lung in association with a large deletion of 17p, but MDS was excluded based on the lack of its clinical manifestations and a confirmed intact LIS1 region.…”

“…6 MDS has been associated with other malformations such as congenital heart disease (PDA and ventricular septal defect), genitourinary anomalies (renal anomalies, cryptorchidism, inguinal hernia), gastrointestinal (GI) tract anomalies (duodenal atresia, omphalocele), limbs defects (contractures, polydactyly/syndactyly/clinodactyly), and ear anomalies. 7 …”