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197 Possible Causes for Frontal Bossing, Normal Facies

  • Mucopolysaccharidosis

    […] dysmorphic facies: bushy eyebrows, low forehead, and a short pouting upper lip.[] 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 ).[] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[]

  • Three M Syndrome

    ., 120-130 cm), characteristic facies, and normal intelligence.[] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[] bossing.[]

  • Mucopolysaccharidosis 6

    MPS-VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence[] Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.[] Such characteristics include chubby faces, thickened lips due to the overgrowth of the gums (gingival hypertrophy), an unusually prominent forehead (frontal bossing), and[]

  • Acromegaly

    Facies with prognathism and macroglossia, thick lips, prominent brow ridges (Figure 1), deep voice. Normal on auscultation. Normal fundoscopy.[] The forehead and overlying skin is thickened, sometimes leading to frontal bossing.[] Untreated acromegaly results in marked bony and soft tissue changes including an altered facial appearance (frontal bossing, prognathism), enlargement of the hands and feet[]

  • Hypochondroplasia

    […] with features similar to but much milder than achondroplasia; cranium and facies are normal. [ hypo- G. chondros, cartilage, plasis, a molding] hypochondroplasia chondrodysplasia[] 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.[] It is characterized by rhizomelic dwarfism, trident hands and short fingers, midface hypoplasia with macrocephaly and frontal bossing.[]

  • Mobius Syndrome

    Since the tongue is atrophic, the palate isn't shaped normally that may result in difficult swallowing.[] Because of the doll-facies they have trouble in expressing their emotions and percieving other people's emotions as well.[]

  • Mucopolysaccharidosis 1

    Joint stiffness, corneal clouding, umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Death tends to be in their 20s.[] MPS Hurler-Scheie (I-H/S) MPS Hurler-Scheie (I-H/S) is normally diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement.[]

  • Fucosidosis

    In contrast, the milder phenotypes are characterized by the presence of angiokeratoma, longer survival, and more normal levels of sweat sodium chloride.[] The more severely affected patients have, within the first year of life, the onset of psychomotor retardation, coarse facies, growth retardation, dysostosis multiplex, neurologic[]

  • Alpha-Mannosidosis

    Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration[] Cultured fibroblasts showed partial alpha-mannosidase deficiency (20% of normal), and the sibs were considered to be mildly affected.[] Peripheral blood alpha mannosidase enzyme levels were 3.12 and 3.01 nmol/h/mgprotein (normal range 231.4 81) respectively.[]

  • Robinow Syndrome

    A cytogenetic study revealed a normal female karyotype.[] The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic shortening of forearms, frontal bossing[] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[]

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