Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them.
[ncbi.nlm.nih.gov]
sclerae, Adair-Dighton syndrome, Mild osteogenesis imperfecta, Non-deforming osteogenesis imperfecta, Van der Hoeve syndrome, Classic non-deforming OI with blue sclerae Osteogenesis
[rarediseases.info.nih.gov]
The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years.
[ncbi.nlm.nih.gov]
Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients.
[disorders.eyes.arizona.edu]
Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy.
[aaopt.org]
Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.
[malacards.org]
OI is characterized by the triad of fragile bones, blue sclera, and deafness [5].
[hindawi.com]
A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family.
[ncbi.nlm.nih.gov]
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).
[bjo.bmj.com]
Both eyes were phthisical, had blue sclera, and were soft to palpation.
[jamanetwork.com]
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).
[bjo.bmj.com]
Arkin W (1964) Blue scleras with keratoglobus. Am J Ophthalmol 58: 678–682 Google Scholar 2. Attiah MAH, Sobhy Bey M (1931) Blue sclerotis.
[link.springer.com]
sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.
[zora.uzh.ch]
He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.
[jamanetwork.com]
The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability
[ncbi.nlm.nih.gov]
Conclusions: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae
[jamanetwork.com]
sclerae, depressed nasal bridge, and micrognathia.
[genome.jp]
Clinical description The disorder associates several dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia.
[orpha.net]
[…] accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue
[genome.jp]
Other eye symptoms may include nearsightedness ( myopia ), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment.
[rarediseases.info.nih.gov]
sclerae, pectus excavatum, dislocated lenses, aortic aneurysms and osteopenia, have each been clearly linked to nutritional deficiencies.
[ctds.info]
sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile
[uwcpdx.org]
He had dense eyebrows with mild synophrys, a broad nasal bridge, low set ears, and large corneae (corneal diameter 14.5 mm) with blue sclerae.
[jmg.bmj.com]
sclerae Exotropia Craniosynostosis Cervical spine instability Talipes equinovarus Soft and velvety skin Translucent skin Easy bruising Generalized arterial tortuosity and
[medicinman.cz]
On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia.
[ajnr.org]
Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.
[casereports.bmj.com]
Sclera, Ectopic Lens Hypertelorism, Subluxated globes, Proptosis, Lagophthalmos, Exposure Keratopathy O/E Patient had large head with bulging anterior fontanelle, large distended
[bhj.org.in]
There also have been rare occurances of nystagmus, iris coloboma, aniridia, anisocoria, microcornea, megalocornea, cataract, ectopia lentis, blue sclera, glaucoma and luxation
[scialert.net]
Blue sclerae Blue sclera, Bluish sclerae, Blue outer white part of eyeball [more] An abnormal bluish coloration of the sclera.
[rarediseases.oscar.ncsu.edu]
Blue sclerae MedGen UID: 154236 •Concept ID: C0542514 • Finding An abnormal bluish coloration of the sclera.
[ncbi.nlm.nih.gov]
Overview Braddock syndrome is characterised by the association of VACTERL-like defects, pulmonary hypertension, abnormal ears, blue sclerae, laryngeal webs, and persistent
[wikidoc.org]
Syndrome Inguinal hernia Brachycephaly Downslanted palpebral fissures Telecanthus Arachnodactyly Patent foramen ovale Nervous System Disorders Congenital eye abnormality Blue
[familydiagnosis.com]
Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB
[ukgtn.nhs.uk]
sclerae Adducted thumbs Talipes equinovarus • • • Back to: « Ehlers-Danlos syndrome, musculocontractural type 2 Back to: « Ehlers-Danlos syndrome Disease Articles Ehlers-Danlos
[familydiagnosis.com]
Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation
[radiopaedia.org]
Patients with this syndrome often have blue sclera. Myopia is rare [3].
[journals.eco-vector.com]
Blue sclera is noted in patients with Loeys–Dietz syndrome and is usually not registered in patients with Marfan syndrome [3].
[journals.eco-vector.com]
Abnormality of the digestive system Abnormal duodenum morphology Constipation Intestinal malrotation Abnormality of the eye Abnormal anterior chamber morphology Astigmatism Blue
[ncbi.nlm.nih.gov]
[…] the duodenum ; Abnormality of the mouth ; Adducted thumb ; Arachnodactyly ; Arthrogryposis multiplex congenita ; Atrial septal defect ; Autosomal recessive inheritance ; Blue
[mousephenotype.org]
sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile
[uwcpdx.org]
Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed.
[dog.org]
Like EDS patients and EDS-K patients in particular, they may also have blue sclerae, joint hypermobility, hyperelastic skin, and hearing loss.
[forgottendiseases.org]
[…] appearing sclera (eyes) and severe muscle weakness.
[checkorphan.org]
Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation
[radiopaedia.org]
Patients with this syndrome often have blue sclera. Myopia is rare [3].
[journals.eco-vector.com]
sclerae, a blue tinge to the whites of the eyes micrognathia, a small chin retrognathia, receding chin Skeletal system symptoms long fingers and toes contractures of the
[healthline.com]
Diseases related with Short stature and Blue sclerae In the following list you will find some of the most common rare diseases related to Short stature and Blue sclerae that
[mendelian.co]
sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone
[flinders.edu.au]
It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
[orthopaedicweblinks.com]
Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB
[ukgtn.nhs.uk]
sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile
[uwcpdx.org]
sclerae, Gorlin's sign (tongue reaches nose), absence of lingual frenulum Ehlers-Danlos Syndrome (EDS) Type 2 (Mitis) AD, collagen 5.
[quizlet.com]
Microcephaly and mental retardation can be associated with other craniofacial anomalies (craniosynostosis hydrocephalus, encephalocele, blue sclerae, exophthalmia, and cleft
[accessanesthesiology.mhmedical.com]
In some children, the whites of the eyes may be blue (blue sclera) and increased pressure within the eyeball (glaucoma) may also be present.
[rarediseases.org]
Dominant type 2, which is characterized by atypical, yellowish, flatter skin papules than in dominant type 1, skin hyperelasticity, mild angioid streaks and blue sclera.
[eyewiki.aao.org]
• Other ocular findings: blue sclera Classification • Dominant type 1, which contains cutaneous changes and the skin becomes thin, delicate and bruises easily.
[eyewiki.aao.org]
sclerae Whites of eyes are a bluish-gray color 0000592 Cerebral calcification Abnormal deposits of calcium in the brain 0002514 Dilatation Wider than typical opening or gap
[rarediseases.info.nih.gov]
sclera, large ears, and microcephaly.[5] Similarly, other ARCL syndromes such as De Barsy Syndrome (type-III ARCL), Wrinkly Skin Syndrome, which also shows mutations in PYCR1
[journals.lww.com]
sclera), and a triangular-shaped face with a prematurely-aged appearance.
[rarediseases.org]
Some patients also demonstrate lipodystrophy, osteoporosis/osteopenia, and blue sclera.
[mdpi.com]
Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia
[icd10data.com]
sclerae Whites of eyes are a bluish-gray color 0000592 Congenital malformation of the left heart 0045017 Dysplastic pulmonary valve 0005164 Hyperthyroidism Overactive thyroid
[rarediseases.info.nih.gov]
He had alo-pecia of eyebrows and eyelashes, blue scleras, low-set androtated ears, thin lips, and down-slanting mouth angles.Four teeth were observed at delivery, 2 yellowish
[docslide.com.br]
In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those
[ojrd.biomedcentral.com]
sclerae, abnormal teeth, and cleft palate /bifid uvula) Thin, curly hair; sparse eyebrows and eyelashes Joint contractures and hypermobility Loose, elastic skin on the face
[rarediseases.info.nih.gov]
sclerae Whites of eyes are a bluish-gray color 0000592 Cleft palate Cleft roof of mouth 0000175 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Hypertelorism
[rarediseases.info.nih.gov]
CONGENITAL MELANOSIS OCULI: Melanosis oculi (ocular melanocytosis) is congential blue nevus of the episclera and sclera associated with increased pigmentation of the uveal
[visioncareindia.com]
[…] of the sclera in her left eye.
[mejfm.com]
Scleromalacia perforans is a rare form of anterior scleritis which readily presents as a blackish blue hue visible through a thin sclera [ 3 ].
[ncbi.nlm.nih.gov]
Keywords: Aortic root dilatation, blue sclera, enophthalmos, Neonatal Marfan Syndrome How to cite this article: Bhutia E, Kumar P, Kishore S, Yadav DK.
[jcnonweb.com]
sclera, Chiari malformations, and club feet.
[acc.org]
LDS patients may also have widely spaced eyes, cleft palate, blue sclerae, and type 1 Chiari malformations (in which a portion of the cerebellum descends out of the skull
[forgottendiseases.org]
In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those
[ojrd.biomedcentral.com]
The clinical features include redundant, sagging, fragile skin, delayed closure of the fontanelles, blue sclerae, umbilical hernia and short stature. 24 Most patients have
[adc.bmj.com]
sclerae Very Common - Between 80% and 100% cases Abnormality of the metaphysis Very Common - Between 80% and 100% cases Thin skin Very Common - Between 80% and 100% cases
[mendelian.co]
Abstract Ankaferd Blood Stopper (ABS) comprises a mixture of plants and stops bleeding via forming a protein network by erythroid aggregation. Bleeding causes reduction of iron levels in body. It has been indicated that ABS contains significant amount of iron. Thus, we investigated the biological activity of[…]
[ncbi.nlm.nih.gov]
Rheumatoid arthritis is a chronic systemic inflammatory disease. It may affect many tissues and organs and any joint lined by a synovial membrane may be involved. The active disease presents itself as fatigue, loss of appetite, muscle and joint pain and stiffness. The muscle pain is more prominent in the mornings[…]
[symptoma.com]
Patients with keratoglobus and blue sclera as part of a generalized connective tissue disorder are at a high risk of developing corneal perforations either spontaneously or
[ncbi.nlm.nih.gov]
Five patients from two families had similar features including keratoglobus, blue scleras, hyperextensibility of the hand, wrist, and ankle joints, sensorineural conduction
[ncbi.nlm.nih.gov]
Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.
[ncbi.nlm.nih.gov]
He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss.
[ncbi.nlm.nih.gov]
In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposis with
[ochsnerjournal.org]
sclera, and hearing loss.1 Bruck syndrome is a rare collagen disorder that presents with all of these symptoms of osteogenesis imperfecta, excluding hearing loss, and is
[ochsnerjournal.org]
