Create issue ticket

1,080 Possible Causes for Frontal Bossing, Short Stature

  • 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 ).[] Short stature is usually not noted until after age 3 years.[]

  • Mucopolysaccharidosis 6

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

  • 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 ).[] bossing.[]

  • Hypochondroplasia

    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.[] Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[]

  • Three M Syndrome

    Antenatally, he was suspected to have skeletal dysplasia.[] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[] bossing.[]

  • Achondroplasia

    Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[] 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.[]

  • 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[] Endocrine dysfunction secondary to iron overload is common in multiply transfused patients, manifesting as hypogonadotrophic hypogonadism, short stature, acquired hypothyroidism[]

  • 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 7

    People with MPS VII may experience joint stiffness, short stature, an enlarged spleen and liver, and heart and lung complications.[] Figure 1: (a - c) Magnetic resonance image showing scaphocephaly with frontal bossing and bilateral frontotemporal atrophy; (d - f) computed tomography surface shaded display[] MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia.[]

  • Coffin-Lowry Syndrome

    A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature[] Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[]

Further symptoms

Similar symptoms