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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[] Headache, vomiting, altered mental state, intellectual disability, seizures, episodes of hemiplegia and chronic meningitis-like states are CNS manifestations of the disease[] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[]

  • 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 ).[] However, a clear association between EEG, CNS and the history of seizures was not established.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[]

  • 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 ).[] 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.[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[]

  • 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[] 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 "[] 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[]

  • Congenital Syphilis

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

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

  • Achondroplasia

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

  • 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[] 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[] Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus[]

  • Mucopolysaccharidosis 6

    [] Face, Head & Neck Frontal Bossing Examples include low and flat nasal bridge, frontal bossing , gingival hypertrophy, macroglossia, and hirsutism.[] 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.[] Affected individuals may experience seizures, unsteady gait, and aggressive behavior. Affected individuals may eventually lose the ability to walk.[]

  • Hemimegalencephaly

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

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