Iron Deficiency Anemia
A 19-month-old girl with a history of asthma and atopic dermatitis presented to her pediatrician because of parental concerns of pallor and fatigue. On dietary history, it was discovered that she was a picky eater and consumed 26 oz of homogenous milk daily. Her physical examination was unremarkable aside from[…][ncbi.nlm.nih.gov]
Marfan Syndrome
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]
Unique features can include widely spaced eyes, broad or bifid uvula, cleft palate, hydrocephalus (rare), Chiari I malformation, blue sclerae, exotropia, craniosynostosis,[ncbi.nlm.nih.gov]
Rheumatoid Arthritis
To review the diagnostic and prognostic value of anti-mutated citrullinated vimentin (MCV) in rheumatoid arthritis, taking into account the already available serology. Medline was searched via PubMed (1966 to May 2008) for anti-MCV and related terms, arthritis and arthropathies. Studies with anti-MCV,[…][ncbi.nlm.nih.gov]
Osteogenesis Imperfecta
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]
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]
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]
Hallermann-Streiff Syndrome
Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy.[aaopt.org]
Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients.[disorders.eyes.arizona.edu]
Ophthalmic features are microphthalmia, congenital cataracts, blue sclerae and nystagmus.[jpgmonline.com]
Osteogenesis Imperfecta Type 15
Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.[malacards.org]
sclerae and wormian bones but without fractures Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma syndrome[rgd.mcw.edu]
sclerae, death for respiratory insufficiency and pneumonias.[iofbonehealth.org]
Crouzon Syndrome
Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.[casereports.bmj.com]
There also have been rare occurances of nystagmus, iris coloboma, aniridia, anisocoria, microcornea, megalocornea, cataract, ectopia lentis, blue sclera, glaucoma and luxation[scialert.net]
There rarely may occur nystagmus, coloboma of the iris, anisocoria, microcornea or megalocornea, cataract, blue sclerae, glaucoma and globe luxation (6).[arquivosdeorl.org.br]
Brittle Cornea Syndrome Type 1
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]
We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae[ncbi.nlm.nih.gov]
Brittle Cornea Syndrome Type 2
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).[bjo.bmj.com]
sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.[zora.uzh.ch]
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]
Dermatosparaxis
He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.[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]
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]