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43 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] One of the common features include a prominent forehead with tapering chin and jaw, giving the appearance of a triangular face.[symptoma.com] 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]

  • 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] 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]

  • 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] 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] […] 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]

  • 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]

  • Osteogenesis Imperfecta Type 16

    The sclerae are often blue in infancy but may become normal later in childhood.[de.slideshare.net] 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] 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 5

    III- Progressively deforming, with normal sclera. Moderate to severe bone fragility, blue sclera in infancy. Early-onset kyphoscoliosis.[scielo.br] 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] 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] 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 often blue in infancy but may become normal later in childhood.[de.slideshare.net]

  • SHORT Syndrome

    Blue sclera may be noted, particularly in patients of Mediterranean or Middle Eastern origin [ 4 ]. Hair growth is quite sparse in infancy and through early childhood.[alliedacademies.org] Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin ( lipodystrophy ), abnormal position of the ears[en.wikipedia.org] Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus[ncbi.nlm.nih.gov]

  • Renpenning Syndrome

    sclerae Ambiguous genitalia Dental malocclusion Nail dysplasia Talipes equinovarus Dystonia Split hand Mild microcephaly Death in infancy Wide nose Congenital onset Clitoral[mendelian.co] face ; Upslanted palpebral fissure ; Ventricular septal defect ; Wide nasal bridge ; X-linked recessive inheritance Associated Genes PQBP1 (Withdrawn symbols: MRX2, MRX55[mousephenotype.org] The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding[hal.archives-ouvertes.fr]

  • Osteogenesis Imperfecta Type 13

    The sclerae are often blue in infancy but may become normal later in childhood.[de.slideshare.net] Affiliated tissues include bone and skeletal muscle, and related phenotypes are thin vermilion border and triangular face Disease Ontology : 12 An osteogenesis imperfecta[malacards.org] 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]

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