Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.
We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears.
View map Stories of Hallermann Streiff Syndrome HALLERMANN STREIFF SYNDROME STORIES VIEWS BY SURPRISE normal pregnancy. normal birth. due to low set ears and big forhead recommended
ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal widening Broad wide portion of long bone 0003016 Narrow nose Decreased nasal breadth Decreased nasal width Thin
An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal
It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence
Cutis aplasia (missing portion of the skin/hair) Prominent heel Microcephaly Low-set ears Cleft palate or hare lip Collection Procedure • Amniotic fluid Discard the first
Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small
Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set
The most common external ear anomalies include low-set ears, asymmetric ears, or small or absent ear lobes. The degree of hearing loss varies from mild to severe.
Ear anomalies (95-100%) include low-set lop or cup-shaped outer ear with deficient cartilage of the outer pinna and a triangular concha, middle ear ossicle malformations,
[…] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set
[…] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set
Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin
Unlike those with other forms of Long QT syndrome, those with Andersen–Tawil syndrome often have characteristic physical features including low-set ears and a small lower
QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set
[…] with clinical manifestations that include periodic paralysis, prolongation of the QT interval with ventricular arrhythmias, and characteristic physical features including low-set
During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad
Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly
[…] weight Low-set ears Mental deficiency Separation between the left and right side of the rectus abdominis muscle ( diastasis recti ) Small head ( microcephaly ) Small jaw
[…] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set
[…] may include: Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set
ears or malformed ears Drooping eyelid ( ptosis ) Cataracts Coloboma (a defect in the iris of the eye) Macrocephaly (excessively large head) or microcephaly (excessively
Global developmental delay; Hearing impairment; Hypertelorism; Inguinal freckling; Intellectual disability; Joint hypermobility; Large hands; Lisch nodules; Long foot; Low-set
With 5 months, there was a global development disorder, brachycephaly, broad forehead with prominent metopic suture, infraorbital folds, pointed chin, low-set ears, short
set ears, and micrognathia.
We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated
set ears with posterior rotation.
Other anomalies were noted including a pseudo cleft lip, left branchial sinus, and low set ears with posterior rotation.
ears, and brachydactyly.
Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set
Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set ears, and stiffness of facial expression.
ears Low set ears Lowset ears [ more ] 0000369 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Malar flattening Zygomatic flattening 0000272 Metaphyseal
The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low
These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or
[…] eyes, hypertelorism or low-set ears.
Long face with prominent upper jaw Underdeveloped lower jaw Low set ears Prominent nose with narrow nasal passages Thin upper lip with a down-slanted mouth Multiple abnormalities
The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral
Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis
ears Low set ears Lowset ears [ more ] 0000369 Malignant hyperthermia 0002047 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Multiple pterygia 0001040
( arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set
She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures.
Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set
- It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels
Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.
[…] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).
ears, and short neck.
This can cause birth defects such as skull deformities, cleft lip, low set ears, bushy eyebrows, and down slanted eyes.
[…] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set ears Low set ears Lowset ears [ more ] 0000369 Mitral stenosis 0001718 Multiple renal
The other one is Timothy syndrome (LQTS 8), featuring autism, baldness, low-set ears, small upper jaw, dysmorphic teeth, syndactyly both in fingers and in toes, along with
(hypokalaemic periodic paralysis), and characteristic facial and skeletal abnormalities such as a small lower jaw ( micrognathia ), low set ears, and fused or abnormally
[…] syndrome (LQTS 7), whose array of features includes a potassium-sensitive periodic paralysis (triggered by exercise or by glucose ingestion), hypertelorism, widened nose base, low-set
[…] nuchal hairline • Low set ears • Cubitus valgus • Hypertrophic cardiomyopathy Turner’s syndrome • Short stature • Webbed neck • Low nuchal hairline • Low set ears • Cubitus
He had dysmorphic triangular facies, hypertelorism, deep set eyes, down slanting palpebral fissures, low set ears, mild prognathia, and deep philtrum, prominent lower lip
[…] levels of growth hormone Deeply grooved philtrum Hypertelorism : Widely spaced eyes Depressed nasal bridge Down -slanting palpebral fissures Low set ears, posteriorly rotated
Besides a trilobed skull and abnormalities of the extremities, he had low-set ears, stenosis of both external auditory canals, a beak-like nose, microphthalmia, retentio testis
Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and low-set ears Description from OMIM: 607161 Human phenotypes related to Multiple Congenital
set ears * Protruding eyes * Shallow eye orbits * Eyelids unable to close * Corneal ulceration * Wide set eyes * Flat nose root * Underdeveloped midface * Hydrocephalus *
Accessory ears, low set ears and a high arched palate were present. There was no family history of malignant hyperthermia.
set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral
[…] scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low
The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.
Frontal bossing ; Generalized hypotonia ; Global developmental delay ; Hypertelorism ; Joint hypermobility ; Joint laxity ; Juvenile myelomonocytic leukemia ; Long philtrum ; Low-set
She also has curly hair, low-set ears that are rotated backwards, a short neck, pointed chin, Valvular Pulmonary Stenosis, a hole in her heart and widely spaced eyes that
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: low-set ears posteriorly rotated ears Chest External Features: narrow chest Skeletal Pelvis: hip dislocation
Severe mandibular hypoplasia and low-set ears may be additional features.
External anomalies were low-set ears, beaked nose, micrognathia (Fig. 1a), bilateral varus deformity, left claw foot having two toes, cleft between two toes, till metatarsal
Related phenotypes are low-set ears and diabetes mellitus More information from OMIM: 601811 Human phenotypes related to Premature Aging Syndrome, Okamoto Type: 31 (show all
[…] nasal bridge Low nasal root [ more ] 0005280 Diabetes mellitus 0000819 Growth abnormality Abnormal growth Growth issue [ more ] 0001507 Low-set ears Low set ears Lowset ears
13) # Description HPO Frequency HPO Source Accession 1 low-set ears 31 HP:0000369 2 diabetes mellitus 31 HP:0000819 3 cataract 31 HP:0000518 4 depressed nasal bridge 31 HP
ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202
Hydronephrosis ; Hypertelorism ; Hypoplastic labia majora ; Hypoplastic sacrum ; Inguinal hernia ; Intellectual disability ; Long eyelashes ; Long palpebral fissure ; Long philtrum ; Low-set
set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum
A patient with partial trisomy 9 (47,XX, 9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable
The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short
[…] patient, a boy neonate who died immediately after birth, had intra-uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low-set
The patient showed typical "elfin-like" face with wide nostrils and thick lips, large and low-set ears, and dysplastic nails.
[…] a 5 day old neonate with refractory hyperglycemia and paradoxical hypoglycemia, severe intrauterine growth retardation, typical 'elfin' facies (hypertrichosis, large and low-set
[…] emaciated, and had hirsuitism, thickened skin with patchy hyperpigmentation, coarse facial features, sunken cheeks, pointed chin, flared nostrils, broad open mouth, thick lips, low-set
set ears) associated with laryngeal hypoplasia and craniosynostosis.
ears Low set ears Lowset ears [ more ] 0000369 Maxillozygomatic hypoplasia 0005439 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface