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608 Possible Causes for Frontal Bossing, Macrocephaly

  • 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] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[cags.org.ae] Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick[en.wikipedia.org]

  • 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] 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] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • Achondroplasia

    Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[ncbi.nlm.nih.gov] Abstract Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov] A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia.[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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] […] of the sutures, widened nasal bridge, frontal bossing, capud quadratum, widely spaced teeth, coarse facies, skin thickening, claw and shortened fingers (bradydactyly) with[amhsr.org]

  • 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] Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.[symptoma.com] Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[egl-eurofins.com]

  • 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] Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[ncbi.nlm.nih.gov] It is characterized by rhizomelic dwarfism, trident hands and short fingers, midface hypoplasia with macrocephaly and frontal bossing.[ctgt.net]

  • Gigantism

    Other symptoms may include delayed puberty ; double vision or difficulty with side (peripheral) vision; prominent forehead ( frontal bossing ) and a prominent jaw; headache[rarediseases.info.nih.gov] Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus[ncbi.nlm.nih.gov] Other symptoms include: Delayed puberty Double vision or difficulty with side (peripheral) vision Very prominent forehead ( frontal bossing ) and a prominent jaw Gaps between[medlineplus.gov]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com] Individuals with MPS I may have a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features[ghr.nlm.nih.gov]

  • Osteitis Deformans

    Bone deformity (including sabre tibia (bowing of the tibia), kyphosis, frontal bossing of the skull, an enlarged maxilla, an increase in head size).[patient.info] Skull involvement may produce enlargement of the head characterized by more evident frontal bossing and dilated superficial cranial muscles.[veterans.gc.ca]

  • Mucopolysaccharidosis 7

    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]

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