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24 Possible Causes for Blue Sclera in Infancy, Triangular Face

  • Russell-Silver Syndrome

    Blue sclerae. High forehead tapering to micrognathic jaw. Prominent nasal bridge and down-turned corners of mouth.[patient.info] We describe a 10-year-old Taiwanese RSS girl with prenatal and postnatal growth retardation, relative macrocephaly, a triangular face, frontal bossing, and mild fifth finger[ncbi.nlm.nih.gov] face; and fifth-finger clinodactyly.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta Type 3

    Clinical Characteristics Ocular Features: Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present.[disorders.eyes.arizona.edu] Other clinical signs are muscle hypotonia, joint hypermobility, triangular face, severe scoliosis, grayish sclera, dentinogenesis imperfecta and short stature.[iofbonehealth.org] In most cases, the whites of the eyes (sclera) are normal or pale blue during infancy. As an affected infant ages, the pale blue discoloration of the sclera fades.[rarediseases.org]

  • Osteogenesis Imperfecta Typ 4

    Clinical Characteristics Ocular Features: Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present.[disorders.eyes.arizona.edu] face Spinal curvature Teeth possibly brittle (dentinogenesis imperfecta) Hearing loss in 20s or 30s Type II Most severe form Usually fetal demise or death in the perinatal[en.wikibooks.org] In most cases, the whites of the eyes (sclera) are normal or pale blue during infancy. As an affected infant ages, the pale blue discoloration of the sclera fades.[rarediseases.org]

  • Osteogenesis Imperfecta

    Clinical Characteristics Ocular Features: Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present.[disorders.eyes.arizona.edu] Disproportionately short and triangular face with blue sclera was noticed at birth. She can barely walk and suffered multiple fractures till 2-year old.[ncbi.nlm.nih.gov] Sclera is blue in infancy but normal colour in childhood. Patients rarely walk, even after multiple surgical procedures and they have very short stature.[patient.info]

  • Short Stature Type Brussels

    . – The sclerae are deep grey-blue. – Long bones of the arms and legs are described as crumpled.[hypermobility.org] * Triangular face * Unusual facial appearance Prevention - Short stature syndrome- Brussels type Not supplied.[checkorphan.org] face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Percent of people who have these symptoms is not available through HPO Abnormality of[rarediseases.info.nih.gov]

  • Osteogenesis Imperfecta Type 16

    Sclera is blue in infancy but normal colour in childhood. Patients rarely walk, even after multiple surgical procedures and they have very short stature.[patient.info] face Spinal curvature Teeth possibly brittle (dentinogenesis imperfecta) Hearing loss in 20s or 30s Type II Most severe form Usually fetal demise or death in the perinatal[en.wikibooks.org] . – The sclerae are deep grey-blue. – Long bones of the arms and legs are described as crumpled.[hypermobility.org]

  • Osteogenesis Imperfecta Type 5

    In most cases, the whites of the eyes (sclera) are normal or pale blue during infancy. As an affected infant ages, the pale blue discoloration of the sclera fades.[rarediseases.org] Some features of this type of osteogenesis imperfecta include: Bones fracture easily, most before puberty Shorter than average stature Barrel-shaped rib cage Triangular face[bones.emedtv.com] Sclera is blue in infancy but normal colour in childhood. Patients rarely walk, even after multiple surgical procedures and they have very short stature.[patient.info]

  • Osteogenesis Imperfecta Type 2

    Clinical Characteristics Ocular Features: Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present.[disorders.eyes.arizona.edu] A large head, under-developed face bones, and the triangular face shape are characteristic of OI Type III.[news-medical.net] In most cases, the whites of the eyes (sclera) are normal or pale blue during infancy. As an affected infant ages, the pale blue discoloration of the sclera fades.[rarediseases.org]

  • Dentinogenesis Imperfecta Type 1

    […] are often light blue in infancy, but the color intensity varies - the sclerae may lighten to white later in childhood or early adulthood triangular face dentinogenesis imperfecta[radiopaedia.org] Sclera is blue in infancy but normal colour in childhood. Patients rarely walk, even after multiple surgical procedures and they have very short stature.[patient.info] The sclerae of individuals with OI type IV may also be blue at birth and during infancy, but intensity fades within the first years of life [ 29 ].[ojrd.biomedcentral.com]

  • Blue Sclera

    Osteogenesis Imperfecta Clinical Characteristics Ocular Features: Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is[disorders.eyes.arizona.edu] A triangular face , in the simplest sense, is a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards.[en.wikipedia.org] In most cases, the whites of the eyes (sclera) are normal or pale blue during infancy. As an affected infant ages, the pale blue discoloration of the sclera fades.[rarediseases.org]

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