She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.
[doi.org]
She was 153 cm tall and weighed 109 kg with a round face.
[endocrine-abstracts.org]
It is characterized by a multitude of physical features, including a short stature, round face, obesity, brachydactyly and osteoma cutis.
[doi.org]
face Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a PSEUDOHYPOPARATHYROIDISM, TYPE IA Php 1A PHP1A Albright hereditary osteodystrophy-PHP syndrome Ia
[wikidata.org]
Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals
[ncbi.nlm.nih.gov]
In children aged ≤2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).
[ncbi.nlm.nih.gov]
The condition causes short stature, round face, obesity, developmental delay, and short hand bones.
[nlm.nih.gov]
The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.
[ncbi.nlm.nih.gov]
A 3-year-old boy was diagnosed with obesity, delayed pyschomotor development, and round face.
[ncbi.nlm.nih.gov]
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.
[ncbi.nlm.nih.gov]
face with widow's peak and, in one of them, ptosis of the eyelids.
[ncbi.nlm.nih.gov]
Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag
[whonamedit.com]
[…] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round
[checkorphan.org]
The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies
[omim.org]
Growth retardation * Highly arched palate * Hip dislocation * Juvenile diabetes * Large mouth * Low nasal bridge * Mental retardation * Nystagmus * Reduced muscle tone * Round
[checkorphan.org]
Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
[monarchinitiative.org]
KNIEST SYNDROME Kniest dysplasia is a severe type II collagen disease, characterized by trunk and short limbs, prominent joints and mediastinal hypoplasia (rounded face with
[issuu.com]
The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease
[zfin.org]
Typically, patients have the following clinical features 6 : rounded face, sometimes described as 'moon-shaped' progressive centripetal obesity and weight gain prominent supraclavicular
[radiopaedia.org]
face and abdomen with high blood pressure and high blood sugar.
[nadf.us]
Clinical Features 90 – 100 % Central obesity Rounded face (“moon face”) Facial plethora Decreased libido 70 - 90 % Purple striae Menstrual disturbances Hirsutism
[slideshare.net]
face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?
[childrenshospital.org]
Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents
[nicklauschildrens.org]
Common signs and symptoms include: distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin heart muscle weakness which presents
[nicklauschildrens.org]
long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease
[malacards.org]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand
[rarediseases.info.nih.gov]
Growth Other: growth retardation, progressive Voice: high-pitched, coarse voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face
[malacards.org]
Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short
[semanticscholar.org]
broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting
[onlinelibrary.wiley.com]
At 14 mo, we noticed: brachycephaly; thick alveolar ridges; round and mispositioned teeth; deep palmar and plantar creases; shawl scrotum; marked hypotonia; and developmental
[mdpi.com]
The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial
[ncbi.nlm.nih.gov]
face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper
[en.wikipedia.org]
[…] which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round
[en.wikipedia.org]
On examination, round chubby face, short neck, short stature and obesity were observed.
[asean-endocrinejournal.org]
They display the symptoms and signs of AHO (brachydactyly (most often the shortening of the 3, 4 and 5th metacarpals), rounded face, short stature, central obesity, subcutaneous
[orpha.net]
This condition is also associated with short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy.
[diseaseinfosearch.org]
face, midface hypoplasia, prominent bulging eyes.
[uniprot.org]
Facial dysmorphia included a rounded face, micrognathia, depressed nasal bridge, long philtrum and significant bluish corneal haziness in both eyes.
[cags.org.ae]
He presented with multiple joint dislocations and facial features, including a round face, proptosis, and midface hypoplasia (Fig. 1).
[docksci.com]
Facial dysmorphia included a rounded face, micrognathia, depressed nasal bridge, long philtrum and significant bluish corneal haziness in both eyes.
[cags.org.ae]
Patients are characterised (1) clinically by markedly short stature of prenatal onset, joint laxity, and specific facial dysmorphism including a round face, prominent, bulging
[jmg.bmj.com]
It is associated with characteristic dysmorphic features, including a flat round face, midface hypoplasia, short nose, microstomia, and microretrognathia, often resulting
[nature.com]
Cases were noted to have developmental delay and facial dysmorphism (round face, flattened nasal bridge, deep-set eyes, up-slanting palpebral fissures, anteverted nares, thin
[search.clinicalgenome.org]
Figure 1 Facial appearance of the index (A) and sister (E) showing the round face and strabismus.
[eje.bioscientifica.com]
In addition, they may have dysmorphic facies, characterised by microcephaly, round face, prominent large nasal bridge, hypertelorism, epicanthal folds, downward slanting palpebral
[cambridge.org]
Round face MedGen UID: 116087 •Concept ID: C0239479 • Finding The facial appearance is more circular than usual as viewed from the front.
[ncbi.nlm.nih.gov]
face, arched eyebrows, a bulbous upturned nose, and micrognathia.
[uniprot.org]
Abnormality of head or neck Anteverted nares Bulbous nose Cleft palate Furrowed tongue Highly arched eyebrow Round face Short neck Abnormality of limbs Adducted thumb Calcaneovalgus
[ncbi.nlm.nih.gov]
micrognathia flat face round face midface hypoplasia Head And Neck Eyes: glaucoma shallow orbits dislocated lens Skin Nails Hair Hair: hirsutism Skeletal Feet: equinovarus
[malacards.org]
face ; Severe short stature ; Shallow orbits ; Short long bone ; Short neck ; Short ribs Associated Genes - Mouse Orthologs - Source OMIM:224400 (names, synonyms, disease
[mousephenotype.org]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510
[rarediseases.info.nih.gov]
This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior
[intechopen.com]
Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Tall stature (+3 S.D) HEAD AND NECK: [Head]; Large head circumference (+2.5 SD); [Face]; Round face ; [Eyes]; Heavy
[findzebra.com]
[…] clinical features mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round
[genatlas.medecine.univ-paris5.fr]
face Not very common - Between 30% and 50% cases Poor speech Commonly - More than 50% cases Underdeveloped nasal alae Not very common - Between 30% and 50% cases Esotropia
[mendelian.co]
(menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism
[icd9data.com]
(Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting
[fpnotebook.com]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club
[rarediseases.info.nih.gov]
Small lung Underdeveloped lung [ more ] 0002089 Renal cortical microcysts 0004734 Rocker bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round
[rarediseases.info.nih.gov]
[…] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those
[ncbi.nlm.nih.gov]
Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of the face
[ncbi.nlm.nih.gov]
Some individuals with Ullrich CMD may have a distinctive facial appearance with a rounded face with prominent ears.
[rarediseases.org]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Slender build Thin build 0001533 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot
[rarediseases.info.nih.gov]
Respiratory distress Nasal speech Heterogeneous Trophic changes related to pain Pectus carinatum Cleft palate Respiratory arrest Ranula Dental malocclusion Juvenile onset Round
[mendelian.co]
face Conductive hearing impairment Narrow mouth Brachydactyly Tibial metaphyseal irregularity Bowed humerus Hypoplasia of proximal radius Short tubular bones of the hand
[mendelian.co]
[…] beta-hexosaminidase Increased serum iduronate sulfatase activity Abnormality of the rib cage Ptosis Membranous vitreous appearance Limitation of joint mobility Anterior rib cupping Round
[mendelian.co]
Her round face, easily bruised skin, and proximal myopathy all improved significantly. The dose of antihypertensive drugs was reduced by 50%.
[karger.com]
Adults may experience progressive weight gain resulting in extra fat in the midsection, between the shoulder blades, around the neck and in the face, giving the face a rounded
[rarediseases.org]
On examination, she had a significant cushingoid appearance with a round face, thin skin, supraclavicular fat pad, and proximal muscle weakness.
[karger.com]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 Shield chest 0000914 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased
[rarediseases.info.nih.gov]
[…] deficiency Underdevelopment of midface [ more ] 0011800 Narrow mouth Small mouth 0000160 Opacification of the corneal stroma 0007759 Pectus excavatum Funnel chest 0000767 Round
[rarediseases.info.nih.gov]
Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds.
[kumc.edu]
Symptoms may include: Upper body obesity Round face Increased fat around neck Thinning arms and legs Fragile and thin skin Stretch marks on abdomen, thighs, buttocks, arms
[hopkinsmedicine.org]
People with Cushing syndrome usually develop excessive fat throughout the torso and have a large, round face and thin skin.
[msdmanuals.com]
A person with Cushing syndrome usually has a large, round face (moon face). The arms and legs are usually slender in proportion to the thickened trunk.
[msdmanuals.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]
Definition: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase ( IDURONIDASE ) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity[…]
[hon.ch]
