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840 Possible Causes for Frontal Bossing, Short Stature

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] 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 ).[] The patient showed a wide spectrum of symptoms including skeletal dysplasia and short stature with elevated glycosaminoglycans (GAGs) in urine.[]

  • Achondroplasia

    BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[] Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[] 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.[]

  • CINCA Syndrome

    Figure 3: Growth retardation and short stature occur due to the chronic arthritis and steroid therapy (height of 1.40 m at the age of 15; Figure 4: Short, thickened extremities[] 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[] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[]

  • Mucopolysaccharidosis 6

    The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[] [] Face, Head & Neck Frontal Bossing Examples include low and flat nasal bridge, frontal bossing , gingival hypertrophy, macroglossia, and hirsutism.[] Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.[]

  • Mucopolysaccharidosis 2

    Early bone involvement leads to decreased growth velocity and short stature in nearly all patients.[] 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 ).[] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[]

  • Three M Syndrome

    […] dysmorphia and skeletal abnormalities Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three[] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[] bossing.[]

  • Thalassemia

    For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others[] bossing (due to bone marrow expansion) Delayed pneumatization of sinuses Marked overgrowth of the maxillae Ribs and long bones becoming boxlike and convex Premature closure[] Short stature was seen in two-thirds of cases. Longitudinal data were available for only a few cases.[]

  • Hypochondroplasia

    Abstract Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature.[] 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.[] Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders.[]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[] This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions.[] Other causes of general learning disability and short stature.[]

  • Cleidocranial Dysplasia

    […] teeth, and short stature.[] bossing and hypermobility of shoulders) which may come handy in clinical practice.[] Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing.[]

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