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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.[ncbi.nlm.nih.gov] 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 showed a wide spectrum of symptoms including skeletal dysplasia and short stature with elevated glycosaminoglycans (GAGs) in urine.[ncbi.nlm.nih.gov]

  • Achondroplasia

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

  • 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[healio.com] 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]

  • Mucopolysaccharidosis 6

    The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[orpha.net] [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]

  • Mucopolysaccharidosis 2

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

  • Three M Syndrome

    […] dysmorphia and skeletal abnormalities Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three[wikidata.org] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[ctgt.net] bossing.[3msyndrome.wordpress.com]

  • 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[celgene.com] 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[emedicine.medscape.com] Short stature was seen in two-thirds of cases. Longitudinal data were available for only a few cases.[ojrd.com]

  • Hypochondroplasia

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

  • 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[symptoma.com] This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions.[news-medical.net] Other causes of general learning disability and short stature.[patient.info]

  • Cleidocranial Dysplasia

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

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