skeletal dysplasia

Panoramic
view of the jaws showing multiple unerupted supernumerary teeth mimicking premolar, missing gonial angles and underdeveloped maxillary sinuses.
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X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
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lateral X-rax
of lumbar spine in Kniest-Dysplasia showing coronal vertebral clefts
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Chest
radiograph (PA View) of the patient showing thinning and hypoplasia of the clavicles and bell shaped rib-cage.
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Lateral skull
radiograph showing open skull sutures, large fontanels, multiple wormian bones and underdeveloped paranasal sinuses.
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Fig. 259.—
Chondrodystrophia. Adult case. Wide sudden expanding of ends of bones. Short stubby shafts. No bowing in the bones affected. (Original.)Identifier: americanpractice01brya (find matches)Title: American practice of surgery : a complete system of the science and art of surgeryYear: 1906 (1900s)Authors: Bryant, Joseph D. (Joseph Decatur), 1845-1914 Buck, Albert H. (Albert Henry), 1842-1922Subjects: Publisher: New York : W. Wood and companyContributing Library: University of California LibrariesDigitizing Sponsor: Internet ArchiveView Book Page: Book ViewerAbout This Book: Catalog EntryView All Images: All Images From Book Click here to view book online to see this illustration in context in a browseable online version of this book.Note About Images Please note that these images are extracted from scanned page images that may have been digitally enhanced for readability - coloration and appearance of these illustrations may not perfectly resemble the original work.
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X-ray 10y old
male with Achondroplasia
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Identifier:
diseasesofchildr00grah (find matches)Title: Diseases of childrenYear: 1916 (1910s)Authors: Graham, Edwin Eldon, b. 1864Subjects: Children DiseasePublisher: Philadelphia and New York, Lea & FebigerContributing Library: Columbia University LibrariesDigitizing Sponsor: Open Knowledge CommonsView Book Page: Book ViewerAbout This Book: Catalog EntryView All Images: All Images From Book Click here to view book online to see this illustration in context in a browseable online version of this book.Text Appearing Before Image:normal. As a rule, however, they develop slowly, are late in talking,and behind the normal child in acquiring knowledge. The deformityin the sacral region and pelvis caused by defective ossification of theinnominate bones may make normal labor difficult and necessitate theuse of forceps, or, possibly, the performance of Cesarean section. Diagnosis.—The condition has been confounded with hydrocephalus,rickets, and cretinism; but careful examination will invariably resultin a correct diagnosis. X-ray plates will show the short and curvedbones of the arms and legs, and will aid in the recognition of the disease. Prognosis.—The general nutrition of the infant is affected, as isevident from the poor ligamentous and muscular development. Manyof the, children die during birth, or, owing to poor development, soonafterward; others, as has been stated, may live to extreme old age.They marry and have children, and their offspring may either showachondroplasia or be absolutely normal. PLATE IText Appearing After Image:Achondroplasia. ^r^slTf?^r.f^^^^^^l ^f^ ^^ epiphyses with ^.ery short shafts. TheTZs Ina the th h ° proportion than the trunk. The upper feg^ below ;het?eel proportionately shorter than the forearn^s an/lhe CHAPTER VIII.INFANT FEEDING. Cows Milk.—The infant may be fed on cows, goats or asss milk,but as the milk of the cow is almost always obtainable, and that ofthe ass and goat is often difficult to procure, cows milk is, for practicalpurposes, the one which is universally adopted in the United States. Our first thoughts in regard to cows milk should be of the cowsand the farm. The herd should be healthy and free from any taintof tuberculosis. They should be properly fed both in and outside ofthe barn, and care should be taken to see that the pasture fields do notcontain weeds and rank growths. The cows should be carefullygroomed, given an abundance of fresh air and fresh water, and themanure should be removed from the barn as frequently as possible. The milkers should be clean, anNote About Images Please note that these images are extracted from scanned page images that may have been digitally enhanced for readability - coloration and appearance of these illustrations may not perfectly resemble the original work.
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Osteogenesis
Imperfecta Type V in Adult
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Osteogenesis
Imperfecta (OI) Type V in 11 months kid.
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X-ray of a
24-year-old American man, who had suffered more than one hundred bone fractures in his lifetime, and received a childhood clinical diagnosis of type IVB OI. Genetic diagnosis in 2018 identified a previously uncatalogued pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, substitution c.974G>A. Due to childhood neglect and poverty, subject never received surgery to implant intramedullary rods. Malunions are evident as the humerus and femur were broken in adolescence but orthopedic care did not follow. Severe scoliosis, as well as kyphosis, are also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and low bone mineral density (BMD). Subject"s BMD Z-score was -4.1 according to results of a dual-energy X-ray absorptiometry (DXA) scan also done in 2018. This X-ray is of the left forearm and also shows most of the left upper arm and part of the left hand.
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X-Ray of
child with Kniest-syndrome
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X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
Wikipedia • Public domain
X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
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editX-rays of
a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Vertebrae and ribs... ...with multiple rib fractures Right leg, with somewhat deformed long bones (mainly the femur) with widened metaphyses There is also a cortical fracture on the fibula Left leg. Left arm... ...with a periosteal reaction indicating a fracture. Right arm
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Radiopaedia • CC-by-nc-sa 3.0 • de

Skeletal dysplasia (also known as osteochondrodysplasia) refers to any abnormality in bone formation. There is a very wide clinicopathological spectrum and any part of the skeleton can be affected.

Epidemiology

The overall prevalence is estimated at ~2 per 10,000 live births .

Pathology

Types

At least 32 groups with more than 350 distinct entities have been described . One way of broadly classifying them is into limb deficiency, limb shortening/dysplastic or non-limb shortening types. Another way of categorizing is by whether the dysplasia is sclerosing or non-sclerosing.

Limb deficiencies
  • amelia: complete limb absence
  • meromelia: partial limb absence 
Limb shortening/dysplastic

See: short limb skeletal dysplasias

Rhizomelic dwarfism

Rhizomelic dwarfism is characterized by limb shortening, being most notable proximally:

Non-rhizomelic dwarfism
Non-limb shortening

Radiographic features

Skeletal dysplasias are usually diagnosed on antenatal ultrasound or after birth on the basis of clinical features and radiography. There are a wide variety of radiographic features and these are discussed separately.

Antenatal ultrasound

Although no single unifying features exist, Mahony has proposed an evaluation of the following sonographic parameters and questions, which are helpful to achieve a precise diagnosis:

  • what is the degree of bone shortening?
    • the severity of bone shortening varies from extreme (many standard deviations below the mean, at least 5-6 weeks below expected length for gestational age, with the limbs oriented at approximately right angles to the fetal trunk) to mild-to-moderate (with a more normal orientation of the limbs to the fetal trunk)
  • what is the distribution of involvement?
    • rhizomelic, mesomelic, or acromelic bone shortening occurs with different dysplasias
  • are bone fractures or extremity bowing present?
  • what is the degree and distribution of ossification?
  • what is the calvarial configuration?
  • what is the thoracic size?
    • a small thorax indicates a high probability of pulmonary hypoplasia, but the thoracic shape often does not assist in rendering a specific diagnosis
    • rib fractures with a bell-shaped thorax usually indicates osteogenesis imperfecta
  • is polydactyly present?

Treatment and prognosis

The prognosis is widely variable, ranging from being lethal to very mild cosmetic deficits.

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Skelettdysplasie:
Osteogenesis
imperfecta
pediatricimaging.org • CC-by-nc-sa 4.0
Achondroplasie
 
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Ellis-van-Creveld-Syndrom
 
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Chondrodysplasia
punctata
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asphyxierende
Thoraxdysplasie (Jeune-Syndrom)
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Diastrophische
Dysplasie
pediatricimaging.org • CC-by-nc-sa 4.0
chondroectodermal
dysplasia
pediatricimaging.org • CC-by-nc-sa 4.0
Kniest-Syndrom
 
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camptomelic
dysplasia
pediatricimaging.org • CC-by-nc-sa 4.0
Camurati-Engelmann-Syndrom
 
pediatricimaging.org • CC-by-nc-sa 4.0
short limb
skeletal dysplasias
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