(The typical facial features: elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed
[flipper.diff.org]
Cranio-facial features include elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying
[orpha.net]
Listed below are the five cardinal manifestations: Typical facial features : 1 Elongated palpebral fissures with eversion of the lateral third of the lower eyelid. 2 Arched
[flipper.diff.org]
The majority of patients exhibit facial dysmorphism (prominent forehead, narrow bifrontal diameter, sunken eyes, elongated palpebral fissures, puffy cheeks, small nose and
[orpha.net]
palpebral fissures, puffy cheeks, small nose, long philtrum, and thick lips ( Figure 1 ) [ Salih et al 2013, Bosley et al 2014 ] Lens subluxation or dislocation (ectopia
[ncbi.nlm.nih.gov]
These facial differences include a relatively long and narrow face; deep-set, widely-spaced eyes; elongated openings of the eyes (palpebral fissures); puffy cheeks; a small
[ghr.nlm.nih.gov]
fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip.
[ncbi.nlm.nih.gov]
[…] palate and antimongolian slant of palpebral fissure.
[ncbi.nlm.nih.gov]
[…] philtrum, thin upper lip, microg-nathia, upslanting palpebral fissure, cleft palate and ear deformities) that also has similarities with the caudal regression syndrome (Daentl
[rrnursingschool.biz]
upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations.
[interactive-biosoftware.com]
Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated
[interactive-biosoftware.com]
His facial features included an elongated face, short up-slanted palpebral fissures, bilateral epicanthal folds, long eyelashes, anteverted nares, long prominent philtrum,
[nature.com]
[…] face, bilateral epicanthal folds, short up-slanted palpebral fissures, long eyelashes, anteverted nares, long prominent philtrum, thin upper lip and a short neck. ( h–k )
[nature.com]
[…] and weight with relatively short arms, and a pectus excavatum. ( f, g ) Frontal and lateral views of patient 3 at birth ( f ) and at 3 years and 10 months ( g ) showing an elongated
[nature.com]
upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations.
[interactive-biosoftware.com]
Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated
[interactive-biosoftware.com]
palpebral fissures, long ears, and sagging cheeks. 10, 11 Bicuspid aortic valve with thoracic aortic aneurysm Bicuspid aortic valve (BAV) with thoracic aortic aneurysm (TAA
[nature.com]
Characteristic facial features can include a distinctive elongated facies, micrognathia, small mouth, high arched palate, low set ears, long philtrum, beaked nose, down-slanting
[nature.com]
[…] ears, down-slanting palpebral fissures, high nasal bridge.
[ojrd.biomedcentral.com]
[…] face, micrognathia, mild blepharophimosis, downslanting palpebral fissures, beaked nose, high-arched palate. iii) Patient 2 showed elongated face, low-set and anteverted
[ojrd.biomedcentral.com]
[…] left common carotid and left subclavian arteries, ectasia of the innominate artery origin, and bilateral reduction of peripheral pulmonary branches. ii) Patient 1 showed elongated
[ojrd.biomedcentral.com]
NM_176806.3(MOCS2):c.*266_*269delGTCA AND Molybdenum cofactor deficiency, complementation group B Significance: Pathogenic ClinVar: RCV000006484 Variant: NM_176806.3(MOCS2):c.*266_*269delGTCA Type: Variant Allele: NM_176806.3(MOCS2):c.*266_*269delGTCA 21149 Gene: MOCS2 Type: Deletion Location: Chr5: 52397217 -[…]
[gepedia.com]
Patients present with an elongated face, slight hypertelorism, downslanting palpebral fissures, a beaked nose, and a rather long philtrum.
[cmgg.be]
The characteristic craniofacial dysmorphia is present in 100% of the cases and gives the patient a highly evocative appearance with elongated palpebral fissures with eversion
[omicsonline.org]
and narrow palpebral fissures, as well as absence or dysplasia of two or more nails.
[ncbi.nlm.nih.gov]
Ample evidence shows that ethanol causes the "classic" fetal alcohol syndrome (FAS) face (short palpebral fissures, elongated upper lip, deficient philtrum) because it suppresses
[ncbi.nlm.nih.gov]
fissures, epicanthal folds, a small or flat midface, a flat elongated philtrum, a thin upper lip, and a small chin.
[msdmanuals.com]
[…] of the palpebral fissure, abscense of communication between the cyst and the intracranial cavity, normally developed eye that may exhibit degenerative changes secondary to
[scielo.org.co]
palpebral fissure, normally developed eye that may exhibit degenerative changes secondary to the displacement by the teratoma, and transillumination of all or part of the
[eyewiki.aao.org]
[…] clinical features of these tumors include an otherwise healthy newborn with extreme unilateral proptosis, marked stretching of the eyelids over a tense, fluctuating mass, elongation
[scielo.org.co]
[…] facies (in newborns it is usually rounded), palpebral fissures, divergent strabismus, flat nasal bridge, and repetitive respiratory infections 3.
[scielo.br]
Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Face]; Long face; Long philtrum; Micrognathia ; [Eyes]; Downslanting palpebral fissures; Blepharophimosis; Hypertelorism
[findzebra.com]
[…] hypertonicity, scoliosis, flatfoot, facial asymmetry and laxity (maintaining an open mouth with protrusion of the tongue), prominent orbital arch, poor dental occlusion, elongated
[scielo.br]
With advancing age, the shape of the face became more elongated, the palpebral fissures became up-slanting and, in some patients the lip vermilion became more everted.
[docksci.com]
*With age, the face becomes more elongated, the zygomata become flatter and the palpebral fissures more upslanted, and the alae nasi thicken [ Basel-Vanagaite et al 2014 ]
[ncbi.nlm.nih.gov]
palpebral fissures, long ears, and sagging cheeks. 10, 11 Bicuspid aortic valve with thoracic aortic aneurysm Bicuspid aortic valve (BAV) with thoracic aortic aneurysm (TAA
[nature.com]
Characteristic facial features can include a distinctive elongated facies, micrognathia, small mouth, high arched palate, low set ears, long philtrum, beaked nose, down-slanting
[nature.com]
fissures, hypertelorism, blepharoptosis, large and prominent ears, large nose with broad base and elongated philtrum, mandibular prognathism, maxillary/midfacial hypoplasia
[accessanesthesiology.mhmedical.com]
[…] calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent supraorbital ridges with bushy brows, downwardly slanted palpebral
[accessanesthesiology.mhmedical.com]
fissures, elongated nose with flattened nasal bridge, and thick lips), resulting from mutation in the transcription factor TFAP2B on chromosome 6p12-p21 (Char 1978; Sweeney
[rrnursingschool.biz]
[…] fingers has been reported in the Char syndrome (OMIM 169100), a familial association of patent ductus arteriosus and unusual facies (high forehead, flat profile, downturned palpebral
[rrnursingschool.biz]
Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus
[ncbi.nlm.nih.gov]
Our first step was to perform a lateral canthotomy of 5 mm to elongate the narrow horizontal palpebral fissure.
[nature.com]
Our first examination at 6 years of age revealed elongated face with marked ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar
[zdoc.site]
Patients may display variable facial dysmorphia such as a narrow elongated face, protruding malformed ears, epicanthal folds and downslanting palpebral fissures of the eyes
[cags.org.ae]
In childhood, the facies are characterized by an elongated head, macrodolichocephaly, frontal bossing, hypertelorism, downward slanting palpebral fissures, pointed jaw, and
[symptoma.com]
palpebral fissures and late-onset lens dislocation.1,2,5 In addition, they have thickened lips and broad philtrum, thick cheeks, small nose and microcephaly.2,5,6 They usually
[dovepress.com]
[…] of life and an atypical one characterized by a late onset.4,6,12,13 In the classical variant, patients manifest a crude facial phenotype with depressed hyperteloric eyes, elongated
[dovepress.com]
Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes
[panelapp.genomicsengland.co.uk]
broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.
[panelapp.genomicsengland.co.uk]
With time, the face elongates, the palpebral fissures slant downward due to the relative lesser growth of the zygoma, the nose profile becomes more convex, the columella hangs
[docplayer.net]
Newborns often show a full, edematous face, unusual dark hair, upward slanting of the palpebral fissures, a nose without the low hanging columella, a full lower lip, and slight
[docplayer.net]
fissures, elongated nose with flattened nasal bridge, and thick lips), resulting from mutation in the transcription factor TFAP2B on chromosome 6p12-p21 (Char 1978; Sweeney
[rrnursingschool.biz]
[…] fingers has been reported in the Char syndrome (OMIM 169100), a familial association of patent ductus arteriosus and unusual facies (high forehead, flat profile, downturned palpebral
[rrnursingschool.biz]
We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip,
[ncbi.nlm.nih.gov]
fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia.
[onlinelibrary.wiley.com]
elongated philtrum, developmental delay, and profound hypotonia.
[ncbi.nlm.nih.gov]
fissures, elongated nose with flattened nasal bridge, and thick lips), resulting from mutation in the transcription factor TFAP2B on chromosome 6p12-p21 (Char 1978; Sweeney
[rrnursingschool.biz]
[…] fingers has been reported in the Char syndrome (OMIM 169100), a familial association of patent ductus arteriosus and unusual facies (high forehead, flat profile, downturned palpebral
[rrnursingschool.biz]
