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]
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]
Article Access Statistics Viewed 7077 Printed 202 Emailed 9 PDF Downloaded 182 Comments [Add] Cited by others 2 Click on image for details. CASE REPORT Year : 2004 | Volume : 52 | Issue : 4 | Page : 496-498 Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama[…]
[neurologyindia.com]
