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Osteogenesis Imperfecta Type 15
sclerae which remain intensely blue throughout life, in contrast to the sclerae in OI type III and OI type IV which may also be blue at birth and during infancy.[edoj.org.eg]
Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.[malacards.org]
The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI.[ncbi.nlm.nih.gov]
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Marshall-Smith Syndrome
sclerae, depressed nasal bridge, and micrognathia.[ncbi.nlm.nih.gov]
Affected children usually have a long skull with a prominent brow, exophthalmos, blue sclera, megalocornea, sunken nose base with anteverted nares, a small chin, full eyebrows[mgz-muenchen.com]
[…] accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue[ncbi.nlm.nih.gov]
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Brittle Cornea Syndrome 2
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]
All patients presented with blue sclerae. Joint laxity was present in 20 patients; especially prominent in the small joint of the hands and fingers.[cags.org.ae]
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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]
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Hallermann 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]
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Goldberg-Shprintzen Syndrome
sclerae Whites of eyes are a bluish-gray color 0000592 Bulbous nose 0000414 Clinodactyly Permanent curving of the finger 0030084 Congenital onset Symptoms present at birth[rarediseases.info.nih.gov]
Dysmorphological evaluation at 5 years (fig 2 ) showed high arched eyebrows, dense curled eyelashes, a broad nasal bridge, blue sclerae, large corneae (corneal diameter 13.5[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]
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Loeys Dietz Syndrome Type 1
sclerae 0000592 Camptodactyly of finger 0100490 Craniosynostosis 0001363 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Malar flattening Zygomatic flattening[rarediseases.info.nih.gov]
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]
On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia.[ajnr.org]
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Osteogenesis Imperfecta
sclera, deafness) Blue sclera Q13.5 ICD-10-CM Diagnosis Code Q13.5 Blue sclera 2016 2017 2018 Billable/Specific Code POA Exempt with fragility of bone and deafness Q78.0[icd10data.com]
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]
sclera and fragility of bone Q78.0 with blue sclera and fragility of bone Q78.0 Disease, diseased - see also Syndrome Eddowes' Q78.0 (brittle bones and blue sclera) Lobstein's[icd10data.com]
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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]
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Spondyloepimetaphyseal Dysplasia - Abnormal Dentition Syndrome
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.[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]