She had blue sclera and short neck (figure 1), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus.
[n.neurology.org]
Klippel-Feil syndrome type II is massive fusion of two of seven cervical vertebrae associated with short neck and low hair line.
[ncbi.nlm.nih.gov]
We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment
[ncbi.nlm.nih.gov]
[…] barrel-shaped thorax, a short neck, and mild ocular hypertelorism.
[ncbi.nlm.nih.gov]
Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centers. short neck short trunk with protruding abdomen
[radiopaedia.org]
neck It results from an excess of keratan sulphate from a deficit in its degradation pathway.
[radiopaedia.org]
The defects are present at birth and include severe deformity of the spine and chest, short neck, loose and enlarged joints, and irregular ends of the long bones.
[medicinenet.com]
On examination, the child had a short stature with dolichocephaly, short neck, kyphosis at thoraco-lumbar region, pectum excavatum with prominent costal margins, genu valgum
[jnaccjournal.org]
Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate
[ncbi.nlm.nih.gov]
Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),
[ncbi.nlm.nih.gov]
Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism
[uniprot.org]
A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.
[ncbi.nlm.nih.gov]
neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular (19.6%) and urinary systems (13.8%) and pathology related to vision (20.1%) and hearing
[ncbi.nlm.nih.gov]
The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic
[ncbi.nlm.nih.gov]
neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist
[mousephenotype.org]
The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.
[symptoma.com]
short neck), and musculoskeletal signs (myopathy, myotonia, muscular hypertrophy, restricted joint mobility, osteoporosis, dislocated hip, delayed bone age, epiphyseal anomaly
[accessanesthesiology.mhmedical.com]
The short neck and its immobility and instability present a significant challenge for endotracheal intubation.
[ncbi.nlm.nih.gov]
The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness
[ncbi.nlm.nih.gov]
Patients present with a short neck and restricted mobility of the upper spine.
[icd9data.com]
Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.
[disorders.eyes.arizona.edu]
Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.
[omicsonline.org]
Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present.
[rarediseases.org]
He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput,
[docslide.com.br]
neck, and multiple costal and vertebral anomalies.
[unboundmedicine.com]
[…] findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short
[ncbi.nlm.nih.gov]
Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and
[ncbi.nlm.nih.gov]
Note short-limbed dysplasia, relative macrocephaly, and short neck.
[emedicine.medscape.com]
Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones
[ncbi.nlm.nih.gov]
The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities.
[xpertdox.com]
Overview A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other
[checkorphan.org]
[…] long bones Flat acetabular roofs Hypoplastic scapulae Metaphyseal irregularities Narrow chest Round vertebral bodies Sacral stenosis Short neck Short, splayed ribs Snail-shaped
[datagenno.com]
[…] femoral neck Short neck of thighbone 0100864 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Spondyloepimetaphyseal
[rarediseases.info.nih.gov]
Difficult tracheal intubation is likely (even without atlantoaxial instability) because of the presence of a short neck, prominent, big jaws, macroglossia, and limited mouth
[accessanesthesiology.mhmedical.com]
Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal
[malacards.org]
[…] long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen 0010306 Thick eyebrow
[rarediseases.info.nih.gov]
Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized.
[rarediseases.org]
neck; short sternum; “spade”-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second
[onlinelibrary.wiley.com]
neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent
[rarediseases.info.nih.gov]
[…] lip, bifid uvula, micrognathia, and short neck are seen.
[synapse.koreamed.org]
In addition, the phenotype includes dwarfism with short neck and heart malformations.
[pediatricneurosciences.com]
[…] clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short
[ajol.info]
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
[icd10data.com]
This child also presented with most of the features such as short stature, pectus carinatum, short neck, knock knees, kyphosis, projecting jaw, broad mouth, and flat feet
[cjhr.org]
Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening
[omicsonline.org]
Newborns have multiple defects – micrognathia, short neck, congenital heart defects and renal malformations. The children look weak and fragile.
[wikilectures.eu]
neck (3%) Severe feeding problems (3%) Age of onset, natural history, life span [ edit ] Symptoms are apparent from birth in most cases Natural history: Most patients have
[en.wikibooks.org]
Her physical examination noted a stocky physique, broad chest, short neck and short digits.
[ncbi.nlm.nih.gov]
Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.
[disorders.eyes.arizona.edu]
neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper
[medlineplus.gov]
Affiliated tissues include bone, and related phenotypes are low-set ears and short neck
[malacards.org]
Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.
[cags.org.ae]
[…] femoral neck ; Short stature ; Spondylometaphyseal dysplasia ; Waddling gait Associated Genes FN1 (Withdrawn symbols: CIG, FINC, GFND2, LETS, MSF ) Mouse Orthologs Fn1 (Withdrawn
[mousephenotype.org]
Head and neck findings included short neck with limited movement, macrocephaly, coarse facial features, depressed nasal bridge [Figure 1] with copious oral secretions and
[joacp.org]
Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.
[symptoma.com]
Pre-operative physical examination revealed a dysmorphic individual with short stature weighing 20 Kg, height 111 cm and the age did not correlate with his appearance.
[joacp.org]
Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal
[ncbi.nlm.nih.gov]
The neck was short with increased posterior neck skin and webbing.
[latunisiemedicale.com]
neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.
[symptoma.com]
Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone.
[ncbi.nlm.nih.gov]
[…] webbed neck associated with difficult intubation.
[ncbi.nlm.nih.gov]
She also has short neck (Figure 1). There is contracture of both knees. Flexion contractures of both hands and toes of the right foot are found (Figure 2).
[elynsgroup.com]
Children suffering from Down syndrome show certain features such as flat face, a short neck, slating eyes and small mouth.
[imedpub.com]
Symptoms include short head,short neck,poor muscle tone, excessive flexibility etc.
[longdom.org]
Some of the other common physical characteristics include a short neck, small hands and feet, small stature, and a lack of muscle tone.
[everydayhealth.com]
Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence
[jhu.pure.elsevier.com]
A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years
[ncbi.nlm.nih.gov]
Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal
[ncbi.nlm.nih.gov]
Examination and testing may reveal short stature (flat vertebrae cause a short trunk), short neck, kyphosis or scoliosis with pectus carinatum (pigeon chest) and, at the cervical
[sajr.org.za]
Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.
[omicsonline.org]
neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn
[mousephenotype.org]
Note the short stature, short trunk and neck, scoliosis, knee pterygium and neck webbing. A detailed description of the phenotype of the patient is presented in Table 1.
[nature.com]
neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more
[rarediseases.info.nih.gov]
Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal
[ncbi.nlm.nih.gov]
His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with
[ncbi.nlm.nih.gov]
Costello syndrome - syndrome of postnatal growth deficiency, mental subnormality, depressed nasal bridge, curly hair, short neck, cardiomyopathy, and other abnormalities.
[medical-dictionary.thefreedictionary.com]
SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth
[forgottendiseases.org]
The affected baby had, in addition, agenesis of the corpus callosum and other non-specific dysmorphic features including microganthia, a short neck and low set ears.
[cags.org.ae]
Additional symptoms of SJS may include: A short stature Flattened facial features, narrow corners of the eyes, and a small lower jaw Joint deformities such as short neck,
[verywell.com]
[…] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing
[mousephenotype.org]
[…] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,
[mousephenotype.org]
Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and short neck Genetics Home Reference : 26 Atelosteogenesis type 3 is a disorder
[malacards.org]
Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening
[omicsonline.org]
Examination and testing may reveal short stature (flat vertebrae cause a short trunk), short neck, kyphosis or scoliosis with pectus carinatum (pigeon chest) and, at the cervical
[sajr.org.za]
Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities
[invitae.com]
