Symptoma

Acromesomelic Dysplasia

Abstract The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. [ncbi.nlm.nih.gov]

  • Short Forearm

    forearms and lower legs as well as small hands and feet. [merriam-webster.com]

    Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower (distal) legs. These findings are apparent during the first years of life. [healthetreatment.com]

    The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. [diseaseinfosearch.org]

    As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typically become apparent during the first years of life. [rarediseases.org]

    Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. [metrohealth.net]

  • Short Hands

    The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life. Resources MAGIC Foundation 6645 W. [metrohealth.net]

    The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life. [rarediseases.org]

  • Long Arm

    Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]

  • Decrease in Height

    The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. [jmg.bmj.com]

  • Frontal Bossing

    The pelvis has a typical configuration, and the cranium may demonstrate frontal bossing, with a normal head circumference, hypoplastic maxilla and malocclusion. [journalijar.com]

    bossing ; Hypoplasia of the radius ; Joint laxity ; Limited elbow extension ; Long hallux ; Lower thoracic kyphosis ; Lumbar hyperlordosis ; Ovoid vertebral bodies ; Prominent forehead ; Radial bowing ; Redundant skin on fingers ; Short metacarpal ; [mousephenotype.org]

    Such features may include a relatively enlarged head (macrocephaly), unusually prominent forehead (frontal bossing), and pronounced back portion of the head (occipital prominence); a slightly flattened midface; and/or an abnormally small, pug nose. [rarediseases.org]

Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis. [en.wikipedia.org]

Standard Therapies Treatment The treatment of acromesomelic dysplasia is directed toward the specific symptoms and physical characteristics that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. [webmd.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.com]

Benli IT et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506 PubMed Google Scholar 5. [link.springer.com]

Dwarfs: Pathophysiology and anesthetic implications. Anesthesiology 1990;73:739-59. 5. Langer LO, Garett RT. Acromesomelic dysplasia. Radiology 1980;137:349-55. 6. Murray PM, Weinstein SL, Spratt KF. [joacp.org]

Pathophysiology and treatment. Clin Orthop Relat Res 294:64–78 PubMed Google Scholar 41. Karakida K et al (2010) Multiple giant cell tumors in maxilla and skull complicating Paget’s disease of bone. [link.springer.com]

[…] hearing loss due to repeated ear infections Orthodontic treatment to relieve crowding of teeth caused by a small jaw Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems [webmd.com]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ 332 ページ - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.com]

The findings enlisted here suggest that early preventive measures and intercepting any developing malocclusions would suffice the promotion of good oral health during infancy and childhood. [ Fehan Ahmed Khan, Gaurav Kumar Mittal, Adnan Ahmed, Deepanshu [journalijar.com]

A simple and innovative modification of the intubation position aided in airway management and prevented increase in intracranial pressure. References 1. Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, et al. [joacp.org]