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350 Possible Causes for Frontal Bossing, Normal Facies

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  • Hypochondroplasia

    facies www.hss.edu/images/corporate/LL19-preop1-big-179_500.jpg (lack of joint stability) (expressions) Radiologic Traits include: Shortening of long bones Lumbar Distances[prezi.com] bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest.[ncbi.nlm.nih.gov] Physical examination reveals normal facies and intelligence.[slideshare.net]

  • Arthrogryposis Multiplex Congenita

    facies, normal intelligence, multiple joint contractures, and no viceral abnormalities; - distal joints are usually affected more severely; - classic arthrogrypotic deformities[wheelessonline.com] Craniofacially he has a relative frontal bossing, slightly coarse facial features, mild hypertelorism, thin upper and lower lips, rather wide nasal tip, and thick eyebrows[casesjournal.biomedcentral.com] […] periarticular soft tissue structures become fibrotic, leading to development of an incomplete fibrous ankylosis; - Clinical Presentation: - affected patients typically have normal[wheelessonline.com]

  • Cutis Marmorata Telangiectatica Congenita

    The baby reported in this article had a normal facies with no other vascular abnormality, and systemic evaluations including opthalmological examination were normal.[scolaris.beta.semantico.com] Our patient also had unilateral pleural effusion, curved femur and frontal bossing.[ncbi.nlm.nih.gov] […] telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal[ncbi.nlm.nih.gov]

  • Cutis Marmorata

    The baby reported in this article had a normal facies with no other vascular abnormality, and systemic evaluations including opthalmological examination were normal.[e-ijd.org] On examination, we found macrocephaly, frontal bossing, segmental hypertrophy of right side of face, left side of upper limb and right side of lower limb, multiple hemangiomas[ijpd.in] bossing - Joint hypermobility or hyperelastic skin -Hydrocephalus (at least 2 criteria) Table 1: Major and minor criteria for the diagnosis of CMTC and M-CM.[omicsonline.org]

  • Pseudoachondroplasia

    Physical examination reveals normal facies and intelligence.[slideshare.net] The clinical manifestations of achondroplasia include rhizomelic short stature, frontal bossing with midface hypoplasia, short ribs, trident hand, limited elbow extension,[ommbid.mhmedical.com] It is characterized by normal facies, short-limbed dwarfism, joint laxity, and epiphyseal and metaphyseal abnormalities in the growing child.[link.springer.com]

  • Grebe Syndrome

    Other features include obesity and delayed mental development, but mentally normal. Facies normal. Inheritance is autosomal recessive.[whonamedit.com] The head is relatively large with frontal bossing.[clinicalimagingscience.org] bossing, triangular face in childhood but oval later; downslanting palpebral fissures - dental malocclusion - growth retardation - respiratory disorders during sleep (80[sites.uclouvain.be]

  • Generalized Gangliosidosis Type II

    The ears are often large and low-set, the nasal bridge is depressed, the tongue is enlarged and frontal bossing is often striking.[disorders.eyes.arizona.edu] The facial features typically seen in infants with Type I include frontal bossing, ears that are set lower on the head than normal, thicker skin, hair on forehead and neck[encyclopedia.com] Macular cherry-red spots in 50% by 6–10 months; corneal opacities in some Facial dysmorphology: frontal bossing, wide nasal bridge, facial edema (puffy eyelids); peripheral[en.wikipedia.org]

  • Schmid Metaphyseal Chondrodysplasia

    Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized[ncbi.nlm.nih.gov] bossing 0002007 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Micrognathia[rarediseases.info.nih.gov] [From Talkhani et al. 2000 (a) and Uhlmann et al. 1998 (b-d)] the rhizomelic type that is characterized by clover-leaf deformity of the skull, frontal bossing, hypertelorism[rrnursingschool.biz]

  • Humero-Radial Synostosis

    Differential diagnosis Distinguish from Femur-fibula-ulna syndrome which presents with upper limb anomalies and normal facies, and Absence deformity of one leg, congenital[mediscansystems.org] Diseases related with Frontal bossing and Microtia In the following list you will find some of the most common rare diseases related to Frontal bossing and Microtia that can[mendelian.co] The syndrome also displays craniosynostosis with brachy-cephaly and frontal bossing, midface hypoplasia, choanal atresia, depressed nasal bridge, dysplastic ears, stenotic[rrnursingschool.biz]

  • Femoral Agenesis - Femoral Hypoplasia

    Differential diagnosis Distinguish from Femur-fibula-ulna syndrome which presents with upper limb anomalies and normal facies, and Absence deformity of one leg, congenital[mediscansystems.org] Fetal craniofacial structures for membranous ossification, orbits (evaluate to exclude ocular hypertelorism), retrognathia/micrognathia, facial or lip clefting, frontal bossing[perinatology.com] bossing Severe micromelia Narrow thorax with short ribs Platyspondyly Brachydactyly Polyhydramnios Occasional: Agenesis of the corpus callosum,hydrocephalus, cardiac defect[perinatology.com]

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