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Kyphomelic Dysplasia


Presentation

  • We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder.[ncbi.nlm.nih.gov]
  • The age of radiological presentation in this case is comparable with the age of clinical presentation of an irritable hip in the present patient (3 years and 3 months vs 3 years and 4 months).[healio.com]
  • CASE 123 Clinical Presentation A newborn infant presents with multiple dislocations of small and large joints, mild bowing of femora, bilateral clubfeet, and respiratory distress.[radiologykey.com]
Episodic Weakness
  • Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures[books.google.com]
Large Hand
  • hands large hand 0001176 Muscular hypotonia Low or weak muscle tone 0001252 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Bowed humerus Bowed long bone in upper arm 0003865 Cleft palate[rarediseases.info.nih.gov]
Proximal Muscle Weakness
  • Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An[books.google.com]
Calf Hypertrophy
  • Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle[books.google.com]
Broad Nasal Bridge
  • Patients have dysmorphic features with a broad nasal bridge and bulbous nasal tip as well as small teeth and fine coarse hair. Ocular abnormalities are common, including corneal opacities, myopia and astigmatism.[aacijournal.biomedcentral.com]
High Forehead
  • forehead 0000348 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Low-set ears Low set ears Lowset ears [ more ] 0000369 Platyspondyly Flattened vertebrae[rarediseases.info.nih.gov]
  • This girlhad a flat face, a high forehead, and a severemicromelia(photographs of the patient are unavailable). Theproximal segment was extremely short with clinicallyangulation of the femora. Jointmovements were limitedwith multiple webs.[docslide.net]
Low Nasal Root
  • nasal root [ more ] 0005280 Dumbbell-shaped humerus Dumbbell-shaped long bone in upper arm 0005009 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long bone 0003015 High forehead 0000348 Limitation of joint mobility Decreased[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dumbbell-shaped humerus Dumbbell-shaped long bone in upper arm 0005009 Femoral bowing Bowed[rarediseases.info.nih.gov]
Dark Urine
  • […] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark[books.google.com]
Language Delays
  • At that time, an expressive language delay and speech disorder was noted. This was probably due to poor lip and tongue control, and resolved by the age of 3. Fig 1 : Chest radiograph at 21 months.[healio.com]
Foot Drop
  • Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly[books.google.com]

Workup

  • The workup of a potentially battered child is extremely serious, and involves significant legal and social investigations of the parents.[rad.washington.edu]
Slow Nerve Conduction Velocities
  • Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly[books.google.com]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Kyphomelic dysplasia Not supplied. Resources - Kyphomelic dysplasia Not supplied.[checkorphan.org]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
  • Reported experience of GH treatment in short children with skeletal dysplasia is sparse and often limited to short treatment periods and knowledge of its effects on final height and body proportion is generally lacking.[karger.com]

Prognosis

  • The disorder must be differentiated from the Stüve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis.[ncbi.nlm.nih.gov]
  • Diagnosis - Kyphomelic dysplasia These home medical tests may be relevant to Bowing, congenital, short bones: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis - Kyphomelic dysplasia Not supplied.[checkorphan.org]
  • The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.[jmg.bmj.com]

Etiology

  • Etiology Campomelic dysplasia is an autosomal dominant defect in the SOX-9 gene, located on chromosome 17. This defect results in haploinsufficiency of SOX-9 Dec 21, 2015 Posted by in PEDIATRIC IMAGING Comments Off on 123 Campomelic Dysplasia[radiologykey.com]
  • Skip to content Skeletal Dysplasias: FGFR3 Hotspot Panel with Reflex to Full Gene Sequencing Related Gene(s): FGFR3 The phenotypic variation of skeletal dysplasias points to a complex etiology for this class of disorders.[sema4.com]
  • Intellectual Wardsmanship - having the right answers on rounds Providing information to patients and families re: recurrence risks, etiology, and diagnostic/therapeutic issues Resident training examinations Board Examinations 4 Resources Utilized to Prepare[slideplayer.com]
  • Dysplasia Prevalence Etiology Prognosis Features Thanatophoric dysplasia 1 in 10,000 Sporadic Lethal Limbs: very short. Thorax: narrow. Trunk: normal. Head: large with prominent forehead. Type I Femurs: curved (telephone receiver).[fetalmedicine.org]
  • Discussion HED etiology remains unknown and the authors found no references of malignant transformation in the literature.[ 6 ] Different theories have been described to explain HED origin, but none are considered as definitive. They are: 1.[amhsr.org]

Epidemiology

  • She obtained her bachelor of medicine and surgery at the University of Ibadan, College of medicine and a Master’s in Public Health at the Johns Hopkins Bloomberg School of Public Health with a concentration in Epidemiology and Biostatistical methods.[hopkinsmedicine.org]
  • An epidemiological Analysis of CHARGE Syndrome: Preliminary results from a Canadian Study. Am J Med Genet. 2005 Mar 15;133(3):309-17. 32. Searle L, Graham JM, Jr, Prasad C, Blake KD.[lhsc.on.ca]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporosis Rep 2007;5:91-97. Van de Harten JJ, Brons JTJ, Dijkstra PE et al.[iame.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology . Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO . Osteogenesis imperfecta nosology and genetics . Ann N Y Acad Sci 1988; 543 : 1–15. 58.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of the disease is not clearly understood, but electromyography shows nonvariable, continuous high frequency electrical activity ( 10 ).[ajnr.org]
  • Miller, et al, 1970 Moses AM, Miller JL, Levine MATwo distinct pathophysiological mechanisms in Apr 2, 2010 1 Introduction to Biology Teacher's Edition (TE). 1a. Primary pleural squamous cell carcinoma in a free-ranging ….[sri-lanka.ticket2go.by]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporosis Rep 2007;5:91-97. Van de Harten JJ, Brons JTJ, Dijkstra PE et al.[iame.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology . Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO . Osteogenesis imperfecta nosology and genetics . Ann N Y Acad Sci 1988; 543 : 1–15. 58.[nature.com]

Prevention

  • Causes - Kyphomelic dysplasia Other Possible Causes of these Symptoms * Flat face * Narrow chest * Short long bones * Short ribs * Short stature * Small jaw Prevention - Kyphomelic dysplasia Not supplied.[checkorphan.org]
  • Genu Varum Prevention In order to avoid bowlegs, children must be prevented from rickets. Normal exposure to sunlight and adequate levels of vitamin D in the diet enables infants to prevent such disorders.[hxbenefit.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]
  • Together we share a strong commitment to your child’s long-term health and wellness, with a common goal to maximize your child’s mobility, correct deformity and prevent future complications.[nemours.org]
  • Our multidisciplinary approach provides a forum for diagnosis, prevention and treatment. Most children who attend the Missouri Skeletal Dysplasia Clinic are seen on a regular basis, depending on individual needs.[muhealth.org]

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