Osteoporosis
To further characterize the significance of the mutation we studied his mother who is 30 year old with blue sclera and history of backache but no fractures.[ncbi.nlm.nih.gov]
Individuals with OI present with varying degrees of fracture, blue sclerae, dentinogenesis imperfecta, ligament laxity, and hearing impairment. [10] Bone biopsy shows decreased[emedicine.com]
Brittle Cornea Syndrome
Abstract 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]
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]
Her mother appeared small stature, frequent fractures, blue sclera, and deformity of extremities.[ncbi.nlm.nih.gov]
Brittle Cornea Syndrome 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]
Name Brittle Cornea Syndrome 2 Synonyms - Classification developmental, eye, genetic, skin, systemic and rheumatological Phenotypes Autosomal recessive inheritance ; Blue[mousephenotype.org]
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]
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]
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[ncbi.nlm.nih.gov]
Musculocontractural Ehlers-Danlos Syndrome Type 2
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]
Ehlers-Danlos Syndrome, Type 6
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]
Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed.[dog.org]
Loeys Dietz Syndrome Type 1
Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation[radiopaedia.org]
sclerae.[cancertherapyadvisor.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]
Musculocontractural Ehlers-Danlos Syndrome
[…] in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Blue[rarediseases.info.nih.gov]
sclerae Whites of eyes are a bluish-gray color 0000592 Brachycephaly Short and broad skull 0000248 Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337[rarediseases.info.nih.gov]