Abstract We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome. [cris.tau.ac.il]

Here we present an additional 24 patients with CHD3 variants and Snijders Blok-Campeau syndrome. [nature.com]

2021 Published online: May 17, 2021 Issue release date: June 2021 Number of Print Pages: 4 Number of Figures: 2 Number of Tables: 0 ISSN: 1015-3837 (Print) eISSN: 1421-9964 (Online) For additional information: https://www.karger.com/FDT Abstract We present [karger.com]

Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), which is a rare chronic diarrheal disorder presenting in infancy. [searchworks.stanford.edu]

No genotype-phenotype correlations were apparent in this cohort, which is best demonstrated by the differences in clinical presentation in sib pairs with identical mutations. [searchworks-lb.stanford.edu]

• Feeding Difficulties

  Many children have feeding difficulties, and sitting, standing, and walking are often delayed. Quick Facts [chd3.org]

• Sparse Eyebrows

  A broad nasal base, prominent nose, a bifid nasal tip, and characteristic pointy chin is also frequently seen, as well as laterally sparse eyebrows Author Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas [commons.wikimedia.org]

  Facial features The facial features observed in the initial cohort of Snijders Blok-Campeau syndrome patients included widely spaced eyes, a broad and bossed forehead, deep-set eyes/periorbital fullness, narrow palpebral fissures, laterally sparse eyebrows [nature.com]

• Dry Skin

  Dermatologic findings seen in our cohort included, in one patient each, café au lait marks, unusual nuchal skin folds, dry skin, abnormally thick scars, nevus flammeus, deep creases on the soles of the feet, dysplastic toe nails, and a patch of hypopigmented [nature.com]

• Periorbital Fullness

  Facial features The facial features observed in the initial cohort of Snijders Blok-Campeau syndrome patients included widely spaced eyes, a broad and bossed forehead, deep-set eyes/periorbital fullness, narrow palpebral fissures, laterally sparse eyebrows [nature.com]

• Esotropia

  Astigmatism, myopia, and hyperopia were seen in an additional 3 patients each, with other vision abnormalities included dissociated vertical gaze, exotropia, amblyopia, and esotropia in additional 1 patient each. [nature.com]

• Broad Nasal Bridge

  Additional facial features can include full cheeks, a pointed chin, a prominent forehead (frontal bossing), a sunken appearance of the middle of the face (midface hypoplasia), a broad nasal bridge, low-set ears that may be rotated backward, and a thin [encyclopedia.pub]

  nasal bridge 71%[6] Missing teeth 16%[6] Macrocephaly 58%[3] Hearing loss 13%[6] Deep set eyes 54%[6] Microcephaly 5%[6] Cause[edit] The CHD3 gene is required for chromatin remodeling, a process that regulates gene expression.[7] By allowing for the [en.wikipedia.org]

  Overall, we note the similar facial appearance between patients in all variant type groups, with a boxy face, prominent forehead, full cheeks, thin upper lip, broad nose and nasal bridge, deep- and widely-set eyes, and pointed chin. [nature.com]

• Dysarthria

  Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. [ebi.ac.uk]

  Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. [ncbi.nlm.nih.gov]

  […] cases described in scientific literature, with an estimated 150 diagnosed worldwide Snijders Blok-Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene.[1] It is characterized by impaired intellectual development, macrocephaly, dysarthria [en.wikipedia.org]

• Febrile Seizures

  Seizures Seizures were reported in 5 of 24 patients in our cohort (21%). In one case, seizure activity was confined to a single absence seizure, and in another it was confined to three discreet febrile seizures in infancy. [nature.com]

• Broad-Based Gait

  Broad-based gait MedGen UID: 167799 •Concept ID: C0856863 • Finding An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. [ncbi.nlm.nih.gov]

• Convulsions

  […] activity appears slightly more prevalent in our group compared with the initial Snijders Blok-Campeau syndrome patient cohort, where 3 of 35 patients (9%) were found to have seizures—one with epilepsy, with an additional two patients reported with neonatal convulsions [nature.com]

• Walking Delay

  Delayed ability to walk MedGen UID: 66034 •Concept ID: C0241726 • Finding A failure to achieve the ability to walk at an appropriate developmental stage. [ncbi.nlm.nih.gov]

Artigo em Inglês | MEDLINE | ID: mdl-35636660 RESUMO OBJECTIVE: Benign Enlargement of the Subarachnoid Spaces in Infancy (BESSI) is a common finding during workup for progressive macrocephaly. [pesquisa.bvsalud.org]

[…] not correlated with treatments or outcomes significantly different than random simulation. [searchworks.stanford.edu]

Seizure control was achieved upon initiation of carbamazepine treatment. By sequencing, a homozygous variant of the MLC1 gene was found in exon 3: c.255T>G (p.Cys85Trp). [pesquisa.bvsalud.org]

PTEN mosaicism awareness is important to enable diagnosis, which facilitates timely inclusion in cancer surveillance programs improving prognosis and life expectancy. [pesquisa.bvsalud.org]

Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. [searchworks.stanford.edu]

In all cases, the treating provider considered the identified CHD3 variant the most likely underlying genetic etiology for each patient’s presentation. Information regarding the inheritance of the CHD3 variant was known for 22 of the 24 patients. [nature.com]

Subjects Genetics(clinical), Genetics, Medicine, business.industry, business, Genotype, Internal medicine, medicine.medical_specialty, Oncology, Genetic epidemiology, SDHD, Paraganglioma, medicine.disease, Penetrance, SDHB, Germline mutation, Missense [searchworks.stanford.edu]

In this review, we summarize new aspects of the pathophysiology of MLC disease and key aspects of the interaction between GPR37 receptors and MLC proteins. [pesquisa.bvsalud.org]

"Maybe the mutation prevents a stem cell from further developing in a brain cell, or maybe it speeds up the process", says Den Hoed. Ventricles in an organoid. The neuron stem cells in the middle of the ventricles are coloured green. [ru.nl]

We estimate that up to 73 preventable breast cancer deaths occur each year due to the current inequity of access. It may be time to consider alternative funding and implementation models to ensure consistent access across the country. [searchworks.stanford.edu]