The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field

Mølsted, Kirsten; Boers, Maria; Kjær, Inger

doi:10.1002/ajmg.a.33381

Cited by 23 publications

(34 citation statements)

References 46 publications

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“…The phenotypical presentation of human neurocristopathies commonly includes features that have been described in domesticated mammals [Sánchez-Villagra et al, 2016]. Interestingly, well-defined neurocristopathies like velocardiofacial syndrome (OMIM #192430) and DiGeorge syndrome (OMIM #188400) involve schizophrenic features [Mølsted et al, 2010;Zhang et al, 2014;Escot et al, 2016]. Likewise, given the NC derivation of most craniofacial structures, the craniofacial abnormalities observed in SZ are believed to result from disturbances in neuroectodermal development, hence representing putative external biomarkers of atypical brain growth [Compton et al, 2007;Aksoy-Poyraz et al, 2011] and suggesting an additional connection between SZ and domestication at the level of NC functional implications.…”

Section: Other Featuresmentioning

confidence: 99%

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

et al. 2017

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Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. It has been hypothesized that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history, and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this hypothesis, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behavior and cognition, and to favor the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioral levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% of SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the domestication syndrome and primarily involving the neural crest.

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Section: Other Featuresmentioning

confidence: 99%

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

et al. 2017

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“…Some have reported platybasia in patients with 22q11DS with respect to a control group [5,6,7,13,19,20]. Others have used cut-off values, defining platybasia as 7° [21] or 10° [16] above the normal mean without specifying SDs.…”

Section: Discussionmentioning

confidence: 99%

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

2014

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BackgroundAn abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance.MethodsIn this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles.ResultsOne patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was 136.5° (standard deviation, 5.3°; range, 122.3-144.8°). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle (138° vs. 134°, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412).ConclusionsIn this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

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“…Mølsted et al [5] suggested a failure of or aberrant migration of the neural crest during the fourth week of embryogenesis. The defective migration of these cells leads to the syndrome which is associated with variable findings that are, as exemplified by our case, not always clinically pronounced.…”

Section: Discussionmentioning

confidence: 99%

DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood

Zammit

Marguerat

Psaila

et al. 2013

Case Reports in Medicine

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Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report. We report a case of a gentleman with mild dysmorphic features who presented with hypocalcaemia-induced seizures and an associated thyroid mass with a background of learning difficulties and abnormal immune function. Discussion. DiGeorge syndrome was initially described in 1967 by Angelo DiGeorge. The majority of cases are due to a novel mutation. The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. Presentation in adulthood is rare but must be borne in mind when dealing with cases of hypocalcaemia even in the absence of florid phenotypic features. A link with malignant disease has also been reported and should lead to prompt investigation of concerning masses.

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The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field

Cited by 23 publications

References 46 publications

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood

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