Klippel-Feil syndrome type II is massive fusion of two of seven cervical vertebrae associated with short neck and low hair line.
She had blue sclera and short neck (figure 1), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus.
neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist
A, shows typical facial features with fixed facial expression, thick eye brows, blepharospasm, long philtrum, pursed lips, inability to open mouth, and short neck.
The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature
We report a twelve year old child who presented with polyarthritis of knee and ankle joints, developmental delay, syndromic facies, short neck, pectus carinatum, hypertrichosis
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
[…] barrel-shaped thorax, a short neck, and mild ocular hypertelorism.
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
neck It results from an excess of keratan sulphate from a deficit in its degradation pathway.
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.
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.
The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic
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
Patients with Noonan syndrome also have a characteristic appearance: short neck, cervical skin fold, low set ears, hypertelorism.
Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism
Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate
Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present.
Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.
Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, enlargement of the
Other features commonly associated with 3-M syndrome are a short neck, winged scapulae, short thorax, transverse chest groove, hyperlordosis, developmental dysplasia of the
Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short
They all showed numerous dysmorphisms, such as triangular face with prominent forehead, large eyes, depressed nasal bridge, thin upper lip, short neck, and bilateral clinodactyly
Head And Neck Neck: short neck Skeletal Limbs: genu valgum hypoplastic distal ulna narrow joint spaces Skeletal Pelvis: coxa vara short femoral neck irregular iliac crest
[…] metacarpals cone-shaped epiphyses small carpals Growth Height: short stature, disproportionate (short trunk) Chest Ribs Sternum Clavicles And Scapulae: sternal protrusion
[…] stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.
In addition, the phenotype includes dwarfism with short neck and heart malformations.
Short neck, low posterior hairline, and limited range of neck motion. Remainder of examination unremarkable. No Sprengel deformity or scoliosis noted.
This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility.
Features include a short neck, restricted mobility of the upper spine and a low hairline.
[…] findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short
He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput,
neck, and multiple costal and vertebral anomalies.
The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities.
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
[from OMIM] Show allHide all Abnormality of head or neck Cleft palate Midface retrusion Short neck Short nose Abnormality of limbs Advanced ossification of carpal bones Bilateral
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
[…] 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
Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized.
Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and
Note short-limbed dysplasia, relative macrocephaly, and short neck.
Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones
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
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
[…] lip, bifid uvula, micrognathia, and short neck are seen.
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
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening
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
Newborns have multiple defects – micrognathia, short neck, congenital heart defects and renal malformations. The children look weak and fragile.
Her physical examination noted a stocky physique, broad chest, short neck and short digits.
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
Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.
Affiliated tissues include bone, and related phenotypes are low-set ears and short neck
[…] femoral neck ; Short stature ; Spondylometaphyseal dysplasia ; Waddling gait Associated Genes FN1 (Withdrawn symbols: CIG, FINC, GFND2, LETS, MSF ) Mouse Orthologs Fn1 (Withdrawn
Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.
Affected patients also have rhizomelic limb shortening, similar facial features, short necks and cervical spine segmentation defects.
[…] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,
[…] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing
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
Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS.
The neck was short with increased posterior neck skin and webbing.
Head and neck findings included short neck with limited movement, macrocephaly, coarse facial features, depressed nasal bridge [Figure 1] with copious oral secretions and
Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.
Hurler patients have a short neck and odontoid hypoplasia (decreased ossification of the odontoid bone which is the anterior process of the second vertebra).
Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone.
[…] webbed neck associated with difficult intubation.
Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.
Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal
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
neck), the skeleton (short stature with adult height between 118 and 148 cm, barrel chest, pectus excavatum/ carinatum, scoliosis, broad hands and feet, limited extension
Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal
Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.
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
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
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,
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.
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
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
neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn
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.
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
Children suffering from Down syndrome show certain features such as flat face, a short neck, slating eyes and small mouth.
Symptoms include short head,short neck,poor muscle tone, excessive flexibility etc.
Some of the other common physical characteristics include a short neck, small hands and feet, small stature, and a lack of muscle tone.