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9,437 Possible Causes for Narrow, Bell-Shaped Thorax, Overfolded Superior Helix

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] […] 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] face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[signssymptoms.org]

  • FGFR2-Related Bent Bone Dysplasia

    […] thorax, rhizomelia, brachydactyly, ectodermal features, facial anomalies, end-stage renal disease, growth retardation Short rib – polydactyly, thorax narrowing, rhizomelia[arupconsult.com] Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head.[ab-y-ss.com] (a) Anteroposterior (AP)radiograph showing narrow thorax and short ribs, normal mineralizationand trident pelvis.[docslide.com.br]

  • 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]

    Missing: Overfolded Superior Helix
  • 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 condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism, narrow[newmedicalterms.com] […] autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow[medical-dictionary.thefreedictionary.com]

    Missing: Overfolded Superior Helix
  • 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] The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax.[ncbi.nlm.nih.gov] […] 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]

    Missing: Overfolded Superior Helix
  • 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]

    Missing: Overfolded Superior Helix
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[ncbi.nlm.nih.gov] Additional symptoms of thanatophoric dysplasia include: Protuberant abdomen Generalized hypotonia Severe growth deficiency Narrow, bell-shaped thorax with short ribs Brachydactyly[disabled-world.com] . • Clover leaf shaped skull. • Narrow bell shaped thorax. • Protuberant abdomen. • Marked shortened limbs (micromelia). • Brachydactyly with trident hand configuration. 3.5[pubs.sciepub.com]

    Missing: Overfolded Superior Helix
  • Asphyxiating Thoracic Dysplasia

    The typical clinical finding includes a long, narrow, “bell shapedthorax and short, horizontal ribs with irregular costochondral junctions.[doi.org] Short narrow elongated chest- may be seen as narrow fetal thorax antenatally. Other skeletal: 1. Polydactyl (often post axial) 2. Dysplastic acetabulum 3.[slideshare.net] Typical radiographic findings include a narrow, bell-shaped thorax with short, horizontally oriented ribs and irregular costochondral junctions, elevated clavicles, short[doi.org]

    Missing: Overfolded Superior Helix
  • 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]

    Missing: Overfolded Superior Helix
  • 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] A narrow pelvis may necessitate caesarean section in the pregnant female.[jpgmonline.com]

    Missing: Overfolded Superior Helix

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