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67 Possible Causes for Blue Sclera in Infancy

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  • Russell-Silver Syndrome

    Russell-Silver syndrome (RSS) is a form of congenital short stature characterized by severe growth retardation and variable dysmorphic features. In some RSS individuals, alterations in imprinted genes may be involved because approximately 7% of sporadic patients have been observed to have maternal uniparental[…][ncbi.nlm.nih.gov]

  • Hypophosphatasia

    They include the appearance of blue sclera (whites of the eyes) during infancy and childhood, deformities in the arms, legs and chest, frequent occurrences of pneumonia which[blogs.longwood.edu] Symptoms There are reports of blue sclera (whites of the eyes) during infancy and childhood that may resemble osteogenesis imperfecta.[oif.org] Symptoms of hypophosphatasia can appear at any time from infancy to adulthood.[blogs.longwood.edu]

  • Marshall's Syndrome

    sclerae, depressed nasal bridge, and micrognathia.[genome.jp] The majority of reported cases died in infancy or early childhood commonly from respiratory compromise.[genome.jp] […] accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue[genome.jp]

  • Osteomesopyknosis

    The sclerae are often blue in infancy but may become normal later in childhood.[slideshare.net] The sclerae are often blue in infancy but may become normal later in childhood Type IV: This is intermediate in severity between types I and III OI.[slideshare.net]

  • Dentinogenesis Imperfecta Type 1

    […] are often light blue in infancy, but the colour 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] Usually sclerae are blue in infancy but lighten with age. Hearing loss generally begins in the teenage years.[ncbi.nlm.nih.gov]

  • 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] 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] 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]

  • 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] 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] 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]

  • Carpenter-Waziri Syndrome

    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]

  • 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] The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may lighten to white later in childhood or early adulthood.[oif.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 Type 15

    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] The sclerae are often blue in infancy but may become normal later in childhood.[de.slideshare.net] The sclerae are often blue in infancy but may become normal later in childhood Type IV: This is intermediate in severity between types I and III OI.[de.slideshare.net]

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