Neuroimaging features of Cornelia de Lange syndrome

Whitehead, Matthew T.; Nagaraj, Usha D.; Pearl, Phillip L.

doi:10.1007/s00247-015-3300-5

Cited by 25 publications

(23 citation statements)

References 33 publications

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“…Structural brain abnormalities can occur, especially in individuals with NIPBL variants. NIPBL is known to regulate cortical neuron migration in mice 128 and, indeed, cortical malformations have been described in individuals with CdLS caused by NIPBL variants 129 , as have small callosal bodies, white matter abnormalities, cerebellar anomalies and brainstem abnormalities. The limited number of available neuropathological reports confirms these brain anomalies 130 .…”

Section: Neurologymentioning

confidence: 99%

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

et al. 2018

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Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

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Section: Neurologymentioning

confidence: 99%

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

et al. 2018

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“…Autopsies have revealed specific changes: hypoplastic corpus callosum, cerebellar vermis, septum pellucidum with septo‐optic dysplasia and commissural dysplasia [Hayashi et al, ]; immature cerebral gyri, thickened leptomeninges, and hypoplastic thalamic nuclei, pons and cerebellar cells [Yamaguchi and Ishitobi, ]; and lack of myelination in temporal cortex, frontal lobe hypoplasia and neurofibrillary tangles [Vuilleumier et al, ]. Some patterns of brain changes on computed tomography (CT) scans and magnetic resonance imaging (MRI) studies have been reported, including enlarged ventricles, thinning of white matter, gyral simplification, and brainstem and cerebellar hypoplasia [Ozkinay et al, ; Kline et al, ; Whitehead et al, ]. There have been no reports of brain study findings compared with either IQ or mutation analysis results in CdLS.…”

Section: Introductionmentioning

confidence: 99%

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Lal¹,

Kliewer²,

Lopes³

et al. 2016

American J of Med Genetics Pt C

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Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings.

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“…None of the listed features, however, are present in the skulls from Ayrydash 1. TBC can also be a part of severe syndromes such as Cornelia de Lange (Whitehead et al, 2015), CHARGE (Mahdi & Whitehead, 2017), Arnold-Chiari (List, 1941), and some others (Johnson & Israel, 1979;Le Double, 1903;Woon et al, 1980). In syndromic cases of TBC, infants have reduced chances of survival into adulthood.…”

Section: Discussionmentioning

confidence: 99%

“…This anomaly is very rare in clinical and skeletal samples (Kawakubo, Dodo, Nara, & Kuraoka, ; Le Double, ; Lombardi, ; Schmidt, Sartor, & Heckl, ). Clinically, TBC is usually asymptomatic (Lombardi, ; Johnson & Israel, ; Schmidt et al, ); however, it sometimes appears as a part of syndromes (Johnson & Israel, ; List, ; Mahdi & Whitehead, ; Whitehead, Nagaraj, & Pearl, ; Woon, Kokich, Clarren, & Cohen, ).…”

Section: Introductionmentioning

confidence: 99%

“…Clinically, TBC is usually asymptomatic (Lombardi, 1961;Johnson & Israel, 1979;Schmidt et al, 1978); however, it sometimes appears as a part of syndromes (Johnson & Israel, 1979;List, 1941;Mahdi & Whitehead, 2017;Whitehead, Nagaraj, & Pearl, 2015;Woon, Kokich, Clarren, & Cohen, 1980). In archaeological contexts, rare congenital anomalies can be useful for identifying closely related individuals within a site (Alt & Vach, 1992;Case, Jones, & Offenbecker, 2017).…”

Section: Introductionmentioning

confidence: 99%

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Transverse basilar cleft: Two more probable familial cases in an archaeological context

Tur

Svyatko

Rykun

2018

Intl J of Osteoarchaeology

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Transverse basilar cleft (TBC) is a very rare congenital anomaly representing a coronal fissure completely or partially intersecting the basioccipital at the level of the pharyngeal tubercle. It is usually asymptomatic but can sometimes be part of a syndrome. Population frequencies of this anomaly are no more than 1%, with few exceptions. Two skulls with TBC were found in the Ayrydash 1 cemetery of Altai Mountains nomads, Russia, attributed to the Hunno‐Sarmatian period (2nd c. BC–5th c. AD). In this paper, we test the possibility of a familial relationship between the individuals who shared by this condition, using the Alt and Vach method for nonspatial analysis of skeletal kinship based on cranial and dental nonmetric traits. Results of the study show that the frequency of TBC is significantly higher in the Ayrydash 1 sample than in the rest of the skeletal population from the Hunno‐Sarmatian period (p < 0.05). This suggests that the individuals affected by TBC were most likely genetic relatives. The observed clustering of TBC and some other rare anomalies within local groups of Altai Mountains nomads appears to be due to parental consanguinity in their community.

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Neuroimaging features of Cornelia de Lange syndrome

Cited by 25 publications

References 33 publications

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Transverse basilar cleft: Two more probable familial cases in an archaeological context

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