Costello syndrome is a mental retardation syndrome characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and
[ncbi.nlm.nih.gov]
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases
[ncbi.nlm.nih.gov]
Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.
[ncbi.nlm.nih.gov]
Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern.
[ncbi.nlm.nih.gov]
face, a broad nasal bridge and a wide mouth, and hyperventilation attacks.
[ncbi.nlm.nih.gov]
" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
[genome.jp]
Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick
[ncbi.nlm.nih.gov]
Carrier females have mild intellectual impairment and short stature, coarse face, prominent lips, soft fleshy hands with thick tapering fingers.
[ggc.org]
Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present.
[nature.com]
She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness.
[ncbi.nlm.nih.gov]
face, mental retardation, and hepatosplenomegaly.
[ncbi.nlm.nih.gov]
Clinical findings Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.
[medical-dictionary.thefreedictionary.com]
Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration
[symptoma.com]
This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction
[genome.jp]
Mucopolysaccharidosis type II is a multisystem disorder and symptoms include coarse face, short stature, skeletal abnormalities, recurrent infections, cardiomyopathy, hepatomegaly
[symptoma.com]
However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarse” face, hypertelorism, “nasal contour” or “short
[jle.com]
Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly,
[karger.com]
The face was 'coarse' with prominent eyebrows, abundant and curly eyelashes, epicanthal folds, convergent strabismus, hypertelorism, flattened and broad nasal bridge, and
[genome.jp]
face and intellectual disability varying from moderate to severe.
[orpha.net]
The common clinical features are short stature, microcephaly, intellectual disability, and coarse face.
[karger.com]
prognathism coarse face Neurologic Central Nervous System: normal intelligence Chest External Features: barrel chest Skeletal Skull: calvarial thickening (parietal and occipital
[malacards.org]
[…] voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face: long philtrum round face midface hypoplasia coarse facies Skeletal
[malacards.org]
[…] disproportionate short limb Head And Neck Mouth: large mouth thick lower lip Skeletal Pelvis: hypoplastic iliac wings Growth Other: growth retardation, progressive Voice: high-pitched, coarse
[malacards.org]
This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.
[genome.jp]
Initial diagnosis was made at MediScan system, Fetal Care and Research Foundation, Mylapore, Chennai, in the light of clinical findings like coarse face, low nasal bridge,
[jisppd.com]
The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped
[en.wikipedia.org]
Figure 1 shows the infant at 20 days of life with a mildly coarse face and generalized oedema (Fig. 1a, b).
[ijponline.biomedcentral.com]
Facial features also begin to appear "coarse." They develop a short nose, flatter face, thicker skin, and a protruding tongue.
[encyclopedia.com]
She showed hypotonia, coarse face, thick eyebrows, long cilia, a flat nasal bridge, a broad nose, a wide mouth, a high palate, and short fifth toes.
[neurologyindia.com]
Apart from changes in the area of fingers and toes, the most characteristic of the syndrome is the face phenotype, including coarse features, thick eyebrows, long eyelashes
[ispub.com]
Typical diagnostic features of this disease include the following: short stature, hypotonia, sparse scalp hair, coarse face, prominent eyebrows, a wide mouth, delayed bone
[neurologyindia.com]
Clinical evaluation revealed coarse face, and joint contractures.
[eurorad.org]
ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of
[ncbi.nlm.nih.gov]
Typically, symptoms include short stature, hairiness, stiff finger joints, and coarseness of the face.
[msdmanuals.com]
Hyperextensible joints/recurrent bone fractures, and distinctive coarse faces( prominent forehead, deep-set eyes, broad nasal bridge, and wide interalar distance) in early
[wikidoc.org]
[…] neonatal papulopustular rash progressing to a chronic impetiginized eczematous dermatitis eczematous dermatitis before the age of 18 months (95%), mainly confined to the face
[humpath.com]
In 1972, Buckley and colleagues reported infectious complications in two children who presented with severe chronic dermatitis, coarse faces, and an increased concentration
[ojrd.biomedcentral.com]
This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.
[malacards.org]
The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.
[disorders.eyes.arizona.edu]
face and recurrent upper airway obstructions and infections during the first few years of life [3], [4], [5].
[degruyter.com]
[…] supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils
[checkorphan.org]
Symptoms - Atkin syndrome Abnormality of the teeth Anteverted nares Coarse facial features Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent
[checkorphan.org]
He had a coarse face, hepatomegaly and generalized spasticity.
[ncbi.nlm.nih.gov]
It is associated with pain, polyarthritis, coarse facial features, “cutis verticis gyrata” (skin wrinkling in the face and scalp), seborrhoea, mild ptosis, hyperhidrosis,
[sboportal.org.br]
His blood pressure was normal, and his outer appearance seemed to indicate acromegaly since the contour of the jaw was enlarged and long making his face appear coarse.
[archivesofrheumatology.org]
He was concerned about the abnormal appearance of his hands and feet and also noticed thickening of skin on face and scalp and coarse features.
[jpma.org.pk]
Low nose bridge, flat face, large head Enlarged liver and spleen Diarrhea Breathing difficulties and snoring Child with Hurler syndrome appears normal at birth.
[en.wikibooks.org]
Progressive coarsening of face is apparent as 8-week-old mice (left) grow to become 52-week-old mice (right).
[medgen.genetics.utah.edu]
Other symptoms may include: Behavioral problems, including hyperactivity Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic
[medlineplus.gov]
Initial diagnosis was made at MediScan system, Fetal Care and Research Foundation, Mylapore, Chennai, in the light of clinical findings like coarse face, low nasal bridge,
[jisppd.com]
Excessive hair growth (hypertrichosis) of the face and body can also occur, although scalp hair may be coarse and straight, resembling thatch or straw.
[rarediseases.org]
Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion syndrome Coarse face - hypotonia - constipation
[liquisearch.com]
face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures
[se-atlas.de]
Causes Several conditions are associated with coarse facial features.
[liquisearch.com]
The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral
[ncbi.nlm.nih.gov]
Acromegalic.png 818 × 1.143; 613 KB Face of a man with acromegaly Wellcome L0067013.jpg 4.166 × 5.849; 2,73 MB Hands and feet of a patient suffering from acromegaly Wellcome
[commons.wikimedia.org]
Acromegalic.png 818 × 1,143; 613 KB Face of a man with acromegaly Wellcome L0067013.jpg 4,166 × 5,849; 2.73 MB Hands and feet of a patient suffering from acromegaly Wellcome
[commons.wikimedia.org]
Acromegalic.png 818 × 1 143; 613 KB Face of a man with acromegaly Wellcome L0067013.jpg 4 166 × 5 849; 2,73 MB Hands and feet of a patient suffering from acromegaly Wellcome
[commons.wikimedia.org]
face, and hirsutism [ 7 ].
[ncbi.nlm.nih.gov]
Others ND 1 has pectus carinatum ND ND ND ND ND Spine abnormalities - ND ND ND ND ND ND ND 8/52 5/6 Scoliosis 1 Scoliosis ND ND ND ND Coarse face + ND ND ND ND ND ND ND at
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Coarse facial features Long face Mandibular prognathia Prominent forehead Prominent nose Thick vermilion border Wide
[ncbi.nlm.nih.gov]
Other key manifestations include early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, a long, narrow face with coarse features, cystic
[accessanesthesiology.mhmedical.com]
These included (1) acroosteolysis, (2) wormian bones, (3) platypasia, (4) premature loss of teeth, (5) micrognathia, (6) coarse face, (7) coarse hair, (8) midface flattening
[hindawi.com]
coarse hair; and a short neck.
[rarediseases.org]
[…] with a crease in the lobules, short neck, and coarse hair.
[pubmed.ncbi.nlm.nih.gov]
Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick
[link.springer.com]
Clavicles And Scapulae Short, thin ribs Growth Height Dwarfism, neonatal short-limbed Head And Neck Neck Short neck [ EoM Image ] Further information: Morphology of elements Face
[mnglabs.com]
Coarse facies Head Macrocephaly [ EoM Image ] Further information: Morphology of elements Inheritance - Autosomal dominant Miscellaneous - Luton and Torrance type differentiated
[mnglabs.com]
Previously reported facial dysmorphisms included brachycephaly, coarse face, hypertelorism, high-set/broad/thick eyebrows, large blue irises, long narrow palpebral fissures
[frontiersin.org]
Dysmorphic features such as facial dysmorphia, coarse face, facial asymmetry and large hands and feet are characteristic hallmarks of NF1 microdeletions.
[frontiersin.org]
midface hypoplasia low frontal hairline coarse facies Head And Neck Mouth: high-arched palate
[malacards.org]
[…] metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face
[malacards.org]
