Miller–Dieker syndrome, type 1 lissencephaly

Herman, T. E.; Siegel, Marilyn J.

doi:10.1038/sj.jp.7211920

Cited by 16 publications

(16 citation statements)

References 7 publications

(13 reference statements)

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“…Although it is responsible for a well-defined syndrome, this diagnosis was not suspected for the patients. This syndrome is characterized by facial dysmorphisms, microcephaly, short stature, seizures, cardiac malformations, and, mainly, different severity grades of agyria in lissencephaly [40, 41]. However, our patients had some relatively nonspecific features and, most importantly, they do not have lissencephaly.…”

Section: Discussionmentioning

confidence: 69%

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

et al. 2017

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Background/Aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. Methods: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array). Additionally, we searched databases and previous studies to recover recurrent pathogenic CNVs associated with short stature. Results: We identified 32 pathogenic/probably pathogenic CNVs in 229 patients. By reviewing the literature, we selected 4 previous studies which evaluated CNVs in cohorts of patients with short stature. Taken together, there were 671 patients with short stature of unknown cause evaluated by chromosomal microarray. Pathogenic/probably pathogenic CNVs were identified in 87 patients (13%). Seven recurrent CNVs, 22q11.21, 15q26, 1p36.33, Xp22.33, 17p13.3, 1q21.1, 2q24.2, were observed. They are responsible for about 40% of all pathogenic/probably pathogenic genomic imbalances found in short stature patients of unknown cause. Conclusion: CNVs seem to play a significant role in patients with short stature. Chromosomal microarray should be used as a diagnostic tool for evaluation of growth disorders, especially for syndromic short stature of unknown cause.

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Section: Discussionmentioning

confidence: 69%

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

et al. 2017

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“…3 Colpocephaly and incomplete opercularization with wide shallow sylvian fissures are noted to produce a shape similar to the figure 8. 4 Partial or complete agenesis of the corpus callosum may also be noted. The antenatal and postnatal brain images in our patient were characteristic of lissencephaly in addition to the uncommonly described finding of a thalamostriate vasculopathy.…”

Section: Discussionmentioning

confidence: 99%

“…The antenatal and postnatal brain images in our patient were characteristic of lissencephaly in addition to the uncommonly described finding of a thalamostriate vasculopathy. 4 Lenticulostriate or thalamostriate vasculopathy is detected using cranial ultrasound as hyperechogenic arteries in the thalamus and basal ganglia. It may represent a perinatal diffuse insult to the fetal brain of ill neonates and is not a classic feature of MDS.…”

Section: Discussionmentioning

confidence: 99%

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

et al. 2014

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“…Herman and Siegel [20] distal 17p deletion Aslan et al [21] (À) ( þ) ( þ) Lin et al [22] del(17)(p13.3) (þ) ( þ) Chen et al [23] del (17)…”

Section: Prenatal Sonographic Featuresmentioning

confidence: 97%

Prenatal Sonographic Features of Miller-Dieker Syndrome

Chen

Chien

2010

Journal of Medical Ultrasound

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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

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Miller–Dieker syndrome, type 1 lissencephaly

Cited by 16 publications

References 7 publications

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Prenatal Sonographic Features of Miller-Dieker Syndrome

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