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617 Possible Causes for Frontal Bossing, Macrocephaly, Seizure

  • CINCA Syndrome

    From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by frontal bossing and saddle back[ncbi.nlm.nih.gov] Headache, vomiting, altered mental state, intellectual disability, seizures, episodes of hemiplegia and chronic meningitis-like states are CNS manifestations of the disease[symptoma.com] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[cags.org.ae]

  • Mucopolysaccharidosis

    Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] However, a clear association between EEG, CNS and the history of seizures was not established.[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other.[ncbi.nlm.nih.gov] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis 7

    Tonic–clonic seizures are the most common type of seizure in Hunter syndrome, but absent and myoclonic seizures have also been reported. 15 It is possible that absence seizures[touchneurology.com] The features of MPS VII include a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "[ghr.nlm.nih.gov] The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped[en.wikipedia.org]

  • Congenital Syphilis

    Mulberry molars (permanent first molars with multiple poorly developed cusps). frontal bossing.[en.wikipedia.org] […] characteristic skin lesions, lymphadenopathy, hepatosplenomegaly, failure to thrive, blood-stained nasal discharge, perioral fissures, meningitis, choroiditis, hydrocephalus, seizures[msdmanuals.com] But if the disease goes untreated, the babies can develop cataracts, deafness or seizures, and could die, according to the CDC.[scpr.org]

  • Hypochondroplasia

    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] The seizures were well controlled, and the patient has been seizure-free since infancy.[ncbi.nlm.nih.gov] Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[ncbi.nlm.nih.gov]

  • Achondroplasia

    Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[ncbi.nlm.nih.gov] This patient exhibits intellectual disability, has a history of seizures, experienced multiple cardiorespiratory complications during early childhood, and required foramen[ncbi.nlm.nih.gov] Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov]

  • Gigantism

    Other symptoms include: Delayed puberty Double vision or difficulty with side (peripheral) vision Very prominent forehead ( frontal bossing ) and a prominent jaw Gaps between[nlm.nih.gov] Abstract The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules[ncbi.nlm.nih.gov] Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    [symptoma.com] Face, Head & Neck Frontal Bossing Examples include low and flat nasal bridge, frontal bossing , gingival hypertrophy, macroglossia, and hirsutism.[symptoma.com] Most children with MPS type IIIA have severe neurological impairment by age 6 years Recurrent or chronic diarrhea and seizures occurs in some MPS III patients.[centogene.com] Affected individuals may experience seizures, unsteady gait, and aggressive behavior. Affected individuals may eventually lose the ability to walk.[rarediseases.org]

  • Hemimegalencephaly

    He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears.[ncbi.nlm.nih.gov] We hypothesize that nearly continuous seizure activity might sustain seizure-induced brain injury in the dysplastic hemisphere but causal heterogeneity and associated anatomical[ncbi.nlm.nih.gov] All three have significant developmental delay and demonstrate other manifestations of the condition: macrocephaly in two, contralateral hemiparesis in one and one boy has[semanticscholar.org]

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