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143 Possible Causes for Bell-Shaped Thorax, Narrow

  • Kaufman Oculocerebrofacial Syndrome

    […] malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive inheritance 0000007 Bell-shaped[rarediseases.info.nih.gov] Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.nih.gov] face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[signssymptoms.org]

  • Pelviscapular Dysplasia

    […] female genitals 0000061 Ambiguous genitalia, male Ambiguous genitalia in males 0000033 Anterior rounding of vertebral bodies 0008488 Autosomal recessive inheritance 0000007 Bell-shaped[rarediseases.info.nih.gov] […] autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow[medical-dictionary.thefreedictionary.com] Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures[uniprot.org]

  • Jeune Syndrome

    It is characterized by a long, narrow bell-shaped thorax with short, horizontally oriented ribs.[radiopaedia.org] After birth, a narrow chest was noted.[ncbi.nlm.nih.gov] The typical clinical finding includes a long, narrow, “bell shapedthorax and short, horizontal ribs with irregular costochondral junctions.[doi.org]

  • Cerebro-Costo-Mandibular Syndrome

    Chest X-rays will reveal a narrow or bell-shaped thorax and bilateral multiple posterior rib gaps, while mandibular hypoplasia can be confirmed using either X-rays or CT.[symptoma.com] 297 Glottic narrowing 298 Enlargement of the epiglottis 299 Laryngeal calcifications 300 Tracheal narrowing B 301 Tracheoesophageal communications 302 Tracheal bowing 303[books.google.com] […] yo̅o̅lər] Etymology: L, cerebrum, brain costa, rib mandibula, mandible an autosomal-recessive syndrome of severe micrognathia and costovertebral abnormalities, including small bell-shaped[medical-dictionary.thefreedictionary.com]

  • Thanatophoric Dysplasia Type 1

    It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[ncbi.nlm.nih.gov] face Small facies [ more ] 0000274 Small foramen magnum Little foramen magnum Narrow foramen magnum [ more ] 0002677 Wide-cupped costochondral junctions 0000910 Showing of[rarediseases.info.nih.gov] 0 0 1 Skeletal dysplasia with acanthosis nigricans 0 0 1 0 0 0 0 1 Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped[clinvarminer.genetics.utah.edu]

  • Congenital Pulmonary Hypoplasia

    […] secondary pulmonary hypertension. 15,30,31 After birth, PH may be suspected when plain radiography findings include diaphragmatic domes elevated up to the seventh rib, a bell-shaped[analesdepediatria.org] […] pulmonary valves * Narrowed pulmonary artery * Infant respiratory distress Causes - Congenital unilateral pulmonary hypoplasia Not supplied.[checkorphan.org] Note the low lung volumes and the bell-shaped configuration of the thorax. Figure E7. Pulmonary hypoplasia secondary to skeletal dysplasia.[slideshare.net]

  • Thanatophoric Dysplasia

    It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[ncbi.nlm.nih.gov] The prenatal ultrasound showed short straight femurs, prominent forehead, narrow chest, skin edema, short limbs, and cloverleaf skull consistent with the diagnosis of TD2.[ncbi.nlm.nih.gov] Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length[endingawantedpregnancy.com]

  • Zellweger Syndrome

    […] nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia of the corpus callosum 0007370 Areflexia Absent tendon reflexes 0001284 Autosomal recessive inheritance 0000007 Bell-shaped[rarediseases.info.nih.gov] Ethnicity-specific studies can help narrow this range by highlighting mutations that are present at higher percentages in certain populations.[ncbi.nlm.nih.gov] […] palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic[rarediseases.info.nih.gov]

  • Asphyxiating Thoracic Dysplasia

    The typical clinical finding includes a long, narrow, “bell shapedthorax and short, horizontal ribs with irregular costochondral junctions.[doi.org] The authors report a case of a lethal form of asphyxiating thoracic dysplasia (Jeune syndrome) in a newborn female with a narrow thoracic cage causing severe respiratory failure[ncbi.nlm.nih.gov] Typical radiographic findings include a narrow, bell-shaped thorax with short, horizontally oriented ribs and irregular costochondral junctions, elevated clavicles, short[doi.org]

  • Cleidocranial Dysplasia

    Chest film showed a bell-shaped thorax with a narrowed upper portion and complete absence of both clavicles.[ajnr.org] Herein is reported the case of monozygotic male 13-year-old twins with typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow[ncbi.nlm.nih.gov] Removable appliances were used to expand the narrow maxillary and mandibular arches, and a Delaire mask compensated for the lack of sagittal growth of the upper jaw.[ncbi.nlm.nih.gov]

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