Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short
[semanticscholar.org]
cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded
[onlinelibrary.wiley.com]
cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.
[epilepsydiagnosis.org]
Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism.
[ncbi.nlm.nih.gov]
[…] forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production
[hal.inserm.fr]
[…] intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent
[hal.inserm.fr]
Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye
[familydiagnosis.com]
SBBYS causes specific facial features, including prominent cheeks, a wide nasal bridge, and a nose with a rounded tip. SBBYS occurs in less than 1 in a million children.
[diseaseinfosearch.org]
Patients often have distinctive facial features, such as prominent cheeks.
[uhbristol.nhs.uk]
Males with Barth syndrome often have distinctive facial features including prominent cheeks.
[malacards.org]
Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short
[semanticscholar.org]
[…] nose with anteverted nostrils, large philtrum, wide, prominent lower lip, and poly(syn)dactyly of feet.
[semanticscholar.org]
Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
[malacards.org]
Additional findings may include prominent cheeks, microstomia, and glossoptosis. read more
[ctgt.net]
cheeks, and question mark ears (QMEs).
[malacards.org]
Affected individuals have dysmorphic facial features that include coarse facial features, bitemporal narrowing, long face, prominent cheeks, widely spaced eyes, enopthalmos
[ncbi.nlm.nih.gov]
cheeks, coarse facies, & bitemporal narrowing Appendicular hypertonia 59% Rigidity may be present at onset of symptoms & persist throughout disease course; spasticity emerges
[ncbi.nlm.nih.gov]
[…] epileptic spams in ~4% of affected persons; often refractory to ASM Feeding difficulties 66% At onset of symptoms Craniofacial dysmorphic features 61% May incl enophthalmos, prominent
[ncbi.nlm.nih.gov]
Symptoms include, but are not limited to, developmental delay, round facial structure, prominent cheeks, and ocular abnormalities (slanted palpebral fissures or strabismus
[hindawi.com]
A literature search of previously reported cases revealed the following clinical phenotype;[6],[7],[8] typical facies (round face with prominent cheeks, coarse and usually
[ipcares.org]
Other patient reports involving 20p duplications consistently report some of the characteristics seen in our patient (Table 1) including round face with prominent cheeks,
[hindawi.com]
She showed multiple dysmorphic features, such as the prominent forehead, broad flat nasal bridge, low-set ears, prominent cheeks, flat profile, single transverse palmar crease
[link.springer.com]
Fig. 3 Facial dysmorphic features include prominent forehead, ptosis, epicanthus, left missing upper eyelid crease, broad flat nasal bridge, low-set ears and prominent cheeks
[link.springer.com]
cheeks, & eversion of vermilion of lower lip Considered similar to Fryns syndrome 2, 3 Sparse hair, 4 syndactyly, & streaky skin pigmentation Hypotonia, seizures, & ID common
[ncbi.nlm.nih.gov]
Included Facial Phenotype Other Clinical Characteristics (in addition to CDH) Pallister-Killian syndrome (PKS) 1 (mosaic tetrasomy 12p) (OMIM 601803) Coarse w/wide-set eyes, prominent
[ncbi.nlm.nih.gov]
Symptoms - Ichthyosis cheek eyebrow syndrome Ichthyosis vulgaris Prominent cheeks Full cheeks Sparse lateral eyebrow High arched roof of mouth Causes - Ichthyosis cheek eyebrow
[checkorphan.org]
Type your tag names separated by a space and hit enter Abstract A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial
[unboundmedicine.com]
They reported a family of four generations affected with ichthyosis vulgaris, prominent and full cheeks, and sparse lateral eyebrows.
[accesspediatrics.mhmedical.com]
cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac
[orpha.net]
Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congenital heart disease
[pubmed.ncbi.nlm.nih.gov]
Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.
[ncbi.nlm.nih.gov]
However it also has unique symptoms and especially characteristic facial features – a thin nose, protruding, prominent eyes, thin lips, sunken cheeks, and a small chin.
[fdna.health]
[…] facies with full cheeks, and prominent or proptotic eyes.
[ncbi.nlm.nih.gov]
The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid
[ncbi.nlm.nih.gov]
The most striking and consistent features are a prominent glabellar nevus flammeus (simplex) that fades with age, synophrys that becomes more prominent with age, hypotonic
[ncbi.nlm.nih.gov]
[…] dimples Blepharophimosis Micrognathia Abnormal ear shape Cleft palate Abnormal dentition blepharophimosis, prominent cheeks with tight facial skin, and dysplastic ears.
[docksci.com]
His ears were low-set, posteriorly angulated, and had slit-like external auditory canals, a prominent superior helix, a hypoplastic inferior helix, and a V-shaped antihelix
[docksci.com]
Dysmorphic features Tight glistening facial skin Upswept frontal hair pattern Hypertelorism or telecanthus Highly arched, sparse eyebrows Flat, bulbous nasal tip Long philtrum Cheek
[docksci.com]
[…] forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears.
[karger.com]
[…] slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears.
[pubmed.ncbi.nlm.nih.gov]
/www.karger.com/CGR Abstract We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent
[karger.com]
In addition to malformed ears, the major features of these patients were prominent cheeks, round facial appearance, micrognathia, microstomia, malocclusion, and hearing loss
[nature.com]
The condition generally presents with a narrow face, small lower jaw and lack of prominent cheek bones Mandibulofacial dysostosis. THOMAS RP.
[aimerpute.com]
cheeks, anomalies of the temporomandibular joint and condyle Cerebrocostomandibular syndrome 117650 Unknown Autosomal dominant and recessive reported Narrow thorax, rib anomalies
[radiologykey.com]
Features: Head And Neck Turricephaly Micrognathia Prominent Cheeks High Forehead A Round Face Ears Dysmorphic Ears With Backward Slanting Eyes Broad Eyebrows Epicanthus Atrophy
[neo-genetics.com]
cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of
[link.springer.com]
cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.
[epilepsydiagnosis.org]
[…] nose, full cheeks, long mid-face and small jaw Small teeth Pigmentation of the skin *Please be aware, not all of the characteristics may be present* Other information about
[littlepeopleuk.org]
[…] nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities.
[resourcerepository.org]
Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features e.g. prominent
[littlepeopleuk.org]
cheeks Small nares Flat philtrum Relatively large mouth Bilateral epicanthal folds High arched palate Microretrognathism Coloboma of the optic disc Strabismus Cup-shaped
[en.wikipedia.org]
Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent
[malacards.org]
cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac
[orpha.net]
cheeks, temporal indentation, large mouth with micrognathia/retrognathia, penile hypoplasia, congenital heart defects, and mental delay [1].
[hindawi.com]
Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.
[link.springer.com]
Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis
[orpha.net]
cheeks, a broad nasal root and hypertelorism (Fig. 1).
[spandidos-publications.com]
[…] demonstrated the following: Body weight, 6,500 g (<3rd centile); height, 71 cm (<3rd centile); poorly pigmented wooly hair; facial dysmorphism, including squared forehead, prominent
[spandidos-publications.com]
A, Microcephaly, low set ears, micrognathia, triangular facial structure, bilateral ptosis, prominent nasal structure, full cheeks; B, elongated foot structure; and C, hypertonicity
[ijp.tums.pub]
a short neck, downward slanting, narrow, palpebral fissures, ptosis, prominent nose with a broad nasal bridge, an abnormal philtrum, downturned mouth, high arched palate
[jmg.bmj.com]
[…] nasal structure, full cheeks, widely spaced nipples, pectus excavatum, arachnodactyly and elongated foot structure (Figure 1).
[ijp.tums.pub]
[…] face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks.
[rarediseases.org]
Infants with the disorder may also have abnormally flat cheeks and cheekbones (malar area), large ears, a prominent mouth with widely spread (patulous) lips, and/or underdeveloped
[rarediseases.org]
In addition, the forehead may be abnormally prominent (frontal bossing), and the face may be triangular shaped with a prominent, pointed chin.
[rarediseases.org]
cheeks and pointy chin.
[ivami.com]
[…] nose and upturned tip, and thin upper lip along with high arched palate, mild micrognathia, low posterior hair line, prominent cheeks, and long hypoplastic philtrum.
[cags.org.ae]
Photograph of face showing hypertelorism, ptosis, short noseh a broad bridge and a splayed upturned tip, prominent cheeks,g hypoplastic philtrum with a thin vermillion border
[documents.tips]
He had abnormal whistling facies including an extremely small puckered mouth; thin, pursed lips with long and well developed philtrum of upper lip, unusually prominent cheeks
[journaldatabase.info]
These features include an extremely small puckered mouth (microstomia); a “full” forehead appearance, unusually prominent cheeks; and thin, pursed lips.
[courageousfacesfoundation.org]
Abundant evidence of sun damage — including weathering, telangiectasias, solar lentiginosis, and numerous actinic keratoses on prominent areas of his cheeks and ears — was
[clinicaladvisor.com]
Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with
[orpha.net]
The excessive lax skin is particularly prominent around the axillae, groins and neck and on the face (giving patients an aged appearance with eyelid ptosis and drooping cheeks
[rarediseases.info.nih.gov]
