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]

CASE PRESENTATION: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy. [pesquisa.bvsalud.org]

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]

• Atrial Septal Defect

  Less commonly, affected individuals are born with a hole between the two upper chambers of the heart (atrial septal defect) or another problem with the heart's structure or function (congenital heart disease). 2. [encyclopedia.pub]

  Less commonly, affected individuals are born with a hole between the two upper chambers of the heart (atrial septal defect) or another problem with the heart's structure or function (congenital heart disease). [medlineplus.gov]

  There did not seem to be any correlation between the nature/location of the underlying CHD3 variant Congenital heart disease Congenital heart disease (CHD) was seen in only 5 of 24 (21%) of patients, mostly accounted for by atrial septal defects (seen [nature.com]

• Low Set Ears

  Many individuals have low-set ears that can be posteriorly rotated, and sometimes simple with thick helices. [commons.wikimedia.org]

  A one-year and two-month old girl indicated large head circumference, widely spaced eyes, narrow palpebral fissures, strabismus on the right eye, broad and low nasal bridge and low-set ears. [x-mol.com]

  Low-set ears MedGen UID: 65980 •Concept ID: C0239234 • Congenital Abnormality Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [ncbi.nlm.nih.gov]

  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]

• 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]

• Strabismus

  Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  A one-year and two-month old girl indicated large head circumference, widely spaced eyes, narrow palpebral fissures, strabismus on the right eye, broad and low nasal bridge and low-set ears. [x-mol.com]

  Most individuals with Snijders Blok-Campeau syndrome have vision problems, including farsightedness (hyperopia) or eyes that do not look in the same direction (strabismus). [encyclopedia.pub]

  Strabismus was seen in 6 of the 18 patients with a reported vision abnormality in our cohort (33%, similar to the 44% reported in the initial cohort), with cortical visual impairment seen in an additional 4 (22%, as compared with 13% of the initial cohort [nature.com]

• Visual Impairment

  Cerebral visual impairment MedGen UID: 890568 •Concept ID: C4048268 • Pathologic Function A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. [ncbi.nlm.nih.gov]

  A similar rate of visual impairment was reported in the initial cohort, where 70% of patients were reported as having some type of visual abnormality[12]. [nature.com]

• Visual Impairment

  Cerebral visual impairment MedGen UID: 890568 •Concept ID: C4048268 • Pathologic Function A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. [ncbi.nlm.nih.gov]

  A similar rate of visual impairment was reported in the initial cohort, where 70% of patients were reported as having some type of visual abnormality[12]. [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]

• Frontal Bossing

  Frontal bossing MedGen UID: 67453 •Concept ID: C0221354 • Congenital Abnormality Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. [ncbi.nlm.nih.gov]

  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]

  As the patients age, however, some of these features become less prominent (the boxy face and full cheeks, for instance), while some features, such as the frontal bossing, prominent and wide nose, and in particular the pointed chin, persist and become [nature.com]

• Prominent Cheeks

  We also note that the facial appearance matures over time, with the full cheeks and boxy face becoming less prominent, while the broad forehead, prominent nose, and pointed chin become more defining of the typical facial appearance at older ages. b Two [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]

• Abnormal 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]

  Comparison with previously reported Xq22 deletions encompassing TCEAL1 identified a more-defined syndrome consisting of hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior [searchworks.stanford.edu]

• Speech Disorder

  We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. [hal.archives-ouvertes.fr]

  Dysarthria MedGen UID: 8510 •Concept ID: C0013362 • Mental or Behavioral Dysfunction Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. [ncbi.nlm.nih.gov]

• 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]

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]