Other characteristics may include a short neck; loose skin folds over the back of the neck; and/or the presence of a benign lesion or birthmark consisting of abnormal clusters
[rarediseases.org]
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]
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]
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]
Figure 1 Face photograph (A) Blue sclera in osteogenesis imperfecta and (B) short neck.
[n.neurology.org]
She had blue sclera and short neck ( figure 1 ), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus.
[n.neurology.org]
Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.
[disorders.eyes.arizona.edu]
Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal
[symptoma.com]
In type A, systems include developmental delay; hepatosplenomegaly; ivory-colored skin lesions; coarse facies; skeletal deformities, including short stature, short neck, broad
[idph.state.il.us]
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]
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 (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]
Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short
[e-enm.org]
His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis.
[ncbi.nlm.nih.gov]
Other features may include a rounded face, wide neck and small subcutaneous ossifications (hard lumps containing true bone under the skin).
[cafamily.org.uk]
The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature
[advbiores.net]
neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist
[mousephenotype.org]
The main signs and symptoms of Schwartz-Jampel syndrome include the following: Short stature Bone abnormalities, such as short neck, outward-bowed chest, curved spine, hip
[patientworthy.com]
neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back
[forgottendiseases.org]
Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck
[admerahealth.com]
neck Pectus deformity Cryptorchidism NA NA NA NA NA Skin changesKeratosis Nevi/lentigines Caf-au-lait spots Short stature2 SD 2 SD 1 SD 1 SD Croonen et al.
[docslide.com.br]
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]
Features of this condition include short stature ( dwarfism ); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality
[rarediseases.info.nih.gov]
neck It results from an excess of keratan sulphate from a deficit in its degradation pathway.
[radiopaedia.org]
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]
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]
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]
Short neck, cervical spine instability, and generalized platyspondyly may also be noted.
[symptoma.com]
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]
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
[icd10data.com]
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]
Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.
[symptoma.com]
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]
Hurler patients have a short neck and odontoid hypoplasia (decreased ossification of the odontoid bone which is the anterior process of the second vertebra).
[themedicalbiochemistrypage.org]
[…] femoral neck Short metacarpal Short metatarsal Short neck Spondyloepimetaphyseal dysplasia Thoracic kyphosis Waddling gait Wide pubic symphysis Based on the frequency of
[dovemed.com]
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]
neck Decreased length of neck 0000470 Short phalanx of finger Short finger bones 0009803 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand
[rarediseases.info.nih.gov]
Additional unusual features were short neck and torticollis.
[doi.org]
Flat foot [ more ] 0001763 Poor coordination 0002370 Radial deviation of finger 0009466 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Short
[rarediseases.info.nih.gov]
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]
Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities
[invitae.com]
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]
Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of
[rarediseases.org]
On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar
[jcor.in]
She had dysmorphic facial features, macroglossia, a short neck, a low hair line, a high arched palate, corneal haziness, Mongolian spots over back, exaggerated thoracic kyphosis
[neurologyindia.com]
Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.
[fsrgroup.org]
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]
She has dysmorphic mask like facies which has whistling appearance and other features include deep set eyes, broad nasal bridge, short neck, hypoplasia of the ala nasai, long
[elynsgroup.com]
In addition, the phenotype includes dwarfism with short neck and heart malformations.
[pediatricneurosciences.com]
neck Click here to view She weighed 15 kg and measured 1.01 m 4 standard deviations.
[pediatricneurosciences.com]
[…] facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short
[forgottendiseases.org]
Patient head was normocephalic but with dysmorphic features (hypertelorism, short wide neck, large pinna, broad nasal bridge, and tented palate) (Figure 1(a)), and he had
[hindawi.com]
neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum
[forgottendiseases.org]
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]
The clinical triad consists of short neck, low posterior hairline and limited neck movement. Multiple congenital anomalies have been associated with this disease.
[ncbi.nlm.nih.gov]
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]
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger
[orpha.net]
A broad nasal bridge, low set ears, and a short neck were reported.
[jmg.bmj.com]
[…] stature, scoliosis, femoral neck anteversion), and recurrent respiratory infections.
[orpha.net]
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]
Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest
[link.springer.com]
neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated
[familydiagnosis.com]
neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Split nail Longitudinal splitting of nail 0001809 Telecanthus Corners
[rarediseases.info.nih.gov]
neck Sprengel anomaly Toe syndactyly Congenital anomaly of eye Exotropia Hypertelorism Nystagmus Ear malformation Sensorineural hearing loss Growth abnormality Hemihypotrophy
[familydiagnosis.com]
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]
They may also have craniofacial anomalies such as flat faces, bulging eyes, a short neck and/or cleft palate.
[chop.edu]
Other symptoms include a curved spine, instability of the cervical spine at C1 and C2 (vertebras in the neck), short neck, clubfoot, cleft palate, and poorly formed femur
[ksginfo.org]
Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and
[ncbi.nlm.nih.gov]
Spondylothoracic dysostosis, or Jarcho-Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short-neck
[ncbi.nlm.nih.gov]
This syndrome is usually diagnosed in newborns with short neck and trunk and short stature.
[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]
