Results 51 to 60 of about 16,006 (225)
Journal of Pediatric Neurosciences, 2022 To summarize the experience of the author with the treatment of hypertelorism.The author has been heading a high-caseload department of craniofacial surgery for 38 years; the research is based on his experience with this pathology by this time.The charts of 38 patients were used for this research.No statistic was used; the author has just given his ...
openaire +2 more sources
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model
Annals of Neurology, EarlyView.Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins +104 more
wiley +1 more source
Indian Journal of Plastic Surgery, 1987 Clefts on 0-14 axis of Tessier have two distinctly different presentations. With a hypoplastic presentation there is an involvement of the forebrain and as ‘face foretells the brain’ a severe hypoteloric appearance is always associated with severe brain ...
S. Bhattacharya +4 more
doaj +1 more source
Distal 2q duplication in a patient with intellectual disability
Human Genome Variation, 2022 We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis
Toshifumi Suzuki +10 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu +4 more
wiley +1 more source
Gorlin syndrome in a patient with skin type VI [PDF]
, 2019 Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar ...
Anderson, Kathryn L +3 more
core
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family [PDF]
, 2016 Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and ...
Bergerheim +20 more
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The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
Clinical Case Reports, 2017 Key Clinical Message This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound.
Bolette F. Jeppesen +5 more
doaj +1 more source
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure [PDF]
, 2012 BACKGROUND: Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly.
Aimée L Fenwick +7 more
core +2 more sources