shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe
[malacards.org]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow
[rarediseases.info.nih.gov]
[…] hypoparathyroidism Skeletal Hands: long fingers short index finger syndactyly (in some patients) tapering fingers (in some patients) clinodactyly of fifth finger more Head And Neck Neck: sloping
[malacards.org]
Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.
[ncbi.nlm.nih.gov]
Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.
[orpha.net]
In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus
[ncbi.nlm.nih.gov]
shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib
[malacards.org]
shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum.
[cags.org.ae]
Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.
[ncbi.nlm.nih.gov]
Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.
[medcraveonline.com]
Additional signs are chest disorder (as a narrow “keeled breast”, sloping shoulders) and adipose tissue deficit.
[medcraveonline.com]
She also had a narrow chest and sloping shoulders, facial dysmorphism as a severe microretrognathia, a small chin, and a prominent beak nose.
[medcraveonline.com]
shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.
[ncbi.nlm.nih.gov]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow
[rarediseases.info.nih.gov]
Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.
[ncbi.nlm.nih.gov]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324
[rarediseases.info.nih.gov]
Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders
[familydiagnosis.com]
[…] forehead ( frontal bossing ), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes ( strabismus ). [1] Other described features include narrow sloping
[rarediseases.info.nih.gov]
Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant
[ncbi.nlm.nih.gov]
shoulders, and significant learning disabilities despite normal intelligence. [2] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops
[rarediseases.info.nih.gov]
shoulders, and significant learning disabilities despite normal intelligence.[2809] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops
[rarediseases.org]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042
[rarediseases.info.nih.gov]
Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Down-sloping
[rarediseases.info.nih.gov]
shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.
[ncbi.nlm.nih.gov]
Chest anomalies, such as pectus excavatum, narrow sloping shoulders, and vertebral anomalies have also been described but are less common.
[radiologykey.com]
shoulders and restriction of shoulder joint movement ◦Phocomelia Cardiac involvement ◦Bradycardia ◦Irregular pulse (ectopy) ◦Irregular pulse that occurs irregularly (atrial
[chdbabies.com]
Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.
[medcraveonline.com]
He has a normal occipitofrontal head circumference (OFC) of 54 cm, normal facial appearance, sloping shoulders, diffuse obesity, gyne- comastia, normal hands and feet, long
[docslide.com.br]
Additional signs are chest disorder (as a narrow “keeled breast”, sloping shoulders) and adipose tissue deficit.
[medcraveonline.com]
Resumen La artrogriposis o contracturas múltiples es la aparición de contracciones articulares de etiología variable en el período prenatal. La artrogriposis puede ser el resultado de un déficit neurológico, de alteraciones neuromusculares, de anomalías del tejido conectivo, de bridas amnióticas o de anomalías[…]
[elsevier.es]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Hyperactivity More active than typical 0000752 Hypoplasia of penis Underdeveloped
[rarediseases.info.nih.gov]
Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Down-sloping
[rarediseases.info.nih.gov]
Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.
[ncbi.nlm.nih.gov]
[…] musculoskeletal system Diaphragmatic weakness Distal amyotrophy Distal muscle weakness Down-sloping shoulders Hand muscle atrophy Scoliosis Abnormality of the nervous system
[ncbi.nlm.nih.gov]
Abnormality of limbs Foot dorsiflexor weakness Hammertoe Pes cavus Shoulder girdle muscle atrophy Abnormality of the genitourinary system Urinary urgency Abnormality of the
[ncbi.nlm.nih.gov]
Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated
[ncbi.nlm.nih.gov]
These may include a sideways and front-to-back curvature of the spine (kyphoscoliosis), narrow and/or sloping shoulders, underdeveloped collarbones (hypoplastic clavicles)
[rarediseases.org]
Long cylindric thorax with sloping, narrow shoulders, underdeveloped clavicles, or thinning of the lateral third of the clavicles on x-ray as well as kyphoscoliosis and exaggerated
[ncbi.nlm.nih.gov]
shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Growth
[rarediseases.info.nih.gov]
Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated
[ncbi.nlm.nih.gov]
[…] upper lip Harelip 0000204 Clinodactyly Permanent curving of the finger 0030084 Dental crowding Crowded teeth Dental overcrowding Overcrowding of teeth [ more ] 0000678 Down-sloping
[rarediseases.info.nih.gov]
[…] but never "shoulder" on the titration curve.
[jstage.jst.go.jp]
[…] reabsorption ratio is decreased in renal disease cases in a range up to the load area of Tm. 2) An increase of loaded amounts of amino-acids resulted in a gentle continuous slope
[jstage.jst.go.jp]
[…] affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped
[rarediseases.info.nih.gov]
Phenotyfrically, all the affected individuals had, among other features, sloping shoulders and short upper limbs.
[nature.com]
Upper limb anomalies such as sloping shoulders, hypoplastic deltoids, HEART-HAND S Y N D R O M E II 111 skeletal dysplasia of the elbows, bowing of ical expressivity.
[docksci.com]
He had sloping shoulders with hypoplastic deltoids, short and asymmetrical arms (the right arm was 3 cm shorter than the left) with limited extension and pronation at the
[docksci.com]
More than half had a prominent or pointed chin and sloping shoulders or trapezius muscles; about one-third had partial or mild syndactyly of the toes and narrow feet; two-thirds
[omim.org]
Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.
[medcraveonline.com]
[…] affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped
[ghr.nlm.nih.gov]
sloping shoulders Sloping shoulders [ more ] 0200021 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Showing of 28 | Last updated: 3/1/2019 If you need medical
[rarediseases.info.nih.gov]
[…] blade 0000912 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Down-sloping shoulders Rounded shoulders Rounded
[rarediseases.info.nih.gov]
[…] lower teeth [ more ] 0010807 Short stature Decreased body height Small stature [ more ] 0004322 Skin dimple over apex of long bone angulation 0001024 Sprengel anomaly High shoulder
[rarediseases.info.nih.gov]
General physical examination revealed short strature, large palms and feet, long neck, sloping shoulders and proportionate body with hyperelastic skin.
[peertechzpublications.com]
[…] arms, scapular winging and sloping shoulders).
[orpha.net]
The initial manifestation is facial weakness (difficulties whistling, smiling and closing the eyes) but the main complain is shoulder involvement (difficulties rising the
[orpha.net]
shoulders 9 of 39 www.orphanet.net/ Thesaurus of Clinical Signs and Symptoms Anomalies of chest/thorax/trunk (continued) Short rib cage/thorax Sternal/sternum anomalies Pectus
[readbag.com]
[…] chest/bell-shaped thorax/shield chest Gynecomastia/breast/mammary gland enlargement/hyperplasia Hypoplastic/absent nipples Long rib cage/thorax Narrow rib cage/thorax Narrow/sloping
[readbag.com]
shoulders,Prominent sternum,Cryptorchidism,No crying,Gastroesophageal reflux,Laryngomalacia,Lactose intolerance,Poor facial expression,Pes planus,Prominent heels,Long halluces
[databases.lovd.nl]
Gijs Santen 00001538 - - - M - - - - - - - CSS brith 39w, weight SD -1.3; Mirror movements,Ridged palate,Down-slanting palpebral fissures,Plaigocephaly,Gaps in lower teeth,Sloping
[databases.lovd.nl]
- - Gijs Santen 00001537 0000000720 - CSS brith 39w, weight SD -1.3; Mirror movements,Ridged palate,Down-slanting palpebral fissures,Plaigocephaly,Gaps in lower teeth,Sloping
[databases.lovd.nl]
[…] together Small scapula Small or absent clavicles (collarbones) with sloping shoulders Short ribs Cervical ribs: extra ribs that arise from vertebrae in the neck Face Small
[ccdsmiles.org]
Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline.
[ncbi.nlm.nih.gov]
[…] are narrow and down sloping.
[jnsbm.org]
The clavicles, or collarbones, are frequently hypoplastic, leading to sloping shoulders which can often touch each other at the midline.
[craniofacialteamtexas.com]
Characteristics can vary: People with cleidocranial dysplasia are born without or with only partial collarbones, giving them sloped shoulders that can rotate unusually forward
[healthblog.uofmhealth.org]
Other characteristics that are less frequently seen are: broad nasal base, low anterior hair line, low set ears, crowding of the teeth, maxillary hypoplasia, rounded and sloping
[en.wikipedia.org]
shoulders Thoracic scoliosis Sprengel anomaly Ovarian cyst Abnormality of the sternum Disproportionate tall stature Inflammation of the large intestine Neoplasm of the endocrine
[mendelian.co]
[…] epiphyses Enlargement of the ankles Sparse bone trabeculae Enlargement of the costochondral junction Cleft palate Vertebral segmentation defect Open bite Long fingers Down-sloping
[mendelian.co]
shoulders and mild intellectual disability.
[mendelian.co]
[…] micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping
[mendelian.co]
shoulders Babinski sign Pes cavus Prominent nose Lymphedema Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pleural
[mendelian.co]
General physical examination revealed short strature, large palms and feet, long neck, sloping shoulders and proportionate body with hyperelastic skin.
[peertechzpublications.com]
