(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]
palpebral fissures that are often accompanied by eversion of the lower lid (particularly the lateral third), and a depressed nasal tip.
[symptoma.com]
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]
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]
You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser. Format Definition An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and[…]
[uniprot.org]
Typical facial features : Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying
[en.wikipedia.org]
A Front view: large, round, elongated face; small, upslanting palpebral fissures; hypertelorism; epicanthus; bushy eyebrows; large nostrils, and thick lower lip vermillion
[library.nih.go.kr]
[…] deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism.
[x-mol.com]
//www.karger.com/CGR Abstract A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated
[karger.com]
Clinical description Dysmorphic features include triangular or elongated face, hypertelorism, wide palpebral fissures, short, stubby nose with anteverted nostrils, long philtrum
[orpha.net]
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]
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]
Typical 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
[blueprintgenetics.com]
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]
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]
Clinical description Dysmorphic features include triangular or elongated face, hypertelorism, wide palpebral fissures, short, stubby nose with anteverted nostrils, long philtrum
[orpha.net]
[…] and sparse eyebrows, short palpebral fissures, microstomia, and high and narrow palate.
[accessanesthesiology.mhmedical.com]
Simosa Penchaszadeh Bustos Syndrome (Simosa Craniofacial Syndrome; Blepharophimosis Telecanthus Microstomia Syndrome): High forehead, elongated and flattened face, arched
[accessanesthesiology.mhmedical.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]
On extraoral examination, triangular-elongated face, widow’s peak, puffy enlarged lips, ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpebral fissure,
[peertechz.com]
Figure 3: Showing triangular-elongated face, widow’s peak, puffy enlarged lips, ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpebral fissure, small and
[peertechz.com]
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]
She had scaphocephaly and microcephalic, low-set ears, elongated face, short palpebral fissures, prominent nasal bridge, micrognathia, high palate, and short neck on physical
[wjpch.com]
Morphologic features of ring chromosome 14 included scaphocephaly, microcephalic low-set ears, elongated face, short palpebral fissures, prominent nasal bridge, micrognathia
[wjpch.com]
[…] face, short palpebral fissures, prominent nasal bridge, micrognathia, high palate, and short neck.
[wjpch.com]
[…] philtrum more Head And Neck Eyes: blepharophimosis short palpebral fissures (in some patients) Head And Neck Ears: small ears Cardiovascular Heart: ventricular septal defect
[malacards.org]
Manifestations Placenta And Umbilical Cord: placental abnormality (in some patients) Head And Neck Face: micrognathia retrognathia hairy forehead prominent or protruding philtrum elongated
[malacards.org]
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 presentation Extreme unilateral proptosis in an otherwise healthy newborn with marked stretching of the eyelids over a tense, fluctuating mass, elongation of the
[eyewiki.aao.org]
Both individuals had dysmorphic features including triangular-shaped face, large eyes, downward slanting palpebral fissures, thin palpebral fissures, elongated ears, prominent
[fdna.health]
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 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]
Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus
[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]
palpebral fissures, mild hypertelorism, flat, broad nasal root, small fontanels, small chin), as well as palmoplantar keratoderma and ichthyosis.
[bredagenetics.com]
The syndrome also includes microcephaly, severe neurologic impairment, failure to thrive with psychomotor retardation, and facial dysmorphism (elongated facies, downward-slanting
[bredagenetics.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]
Typical 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
[blueprintgenetics.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]
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]
