Radiological imaging of skeletal dysplasias

Dr. Bhanupriya Singh.

CLEIDOCRANIAL DYSPLASIA.

CLEIDOCRANIAL DYSPLASIA.

CLEIDOCRANIAL DYSPLASIA.

Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant

Cleidocranial dysplasia. (A) AP view of the skull showing multiple wormian bones along the suture lines. (B) AP view of the upper chest showing an absent right clavicle and small hypoplastic medial segment (arrow) on the left.

Thanatophoric dysplasia.

Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.The radiographic appearance of osteopoikilosis on an x-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger.Men and women are affected in equal number. ,reflecting the fact that this disease attacks indiscriminately. Additionally, the disease is often associated with melorheostosis, despite the apparent lack of correlation between Melorheostosis and genetic heritability

Osteopoikilosis.

Osteopoikilosis.

Mucopolysaccharidosis type I Hurler-Scheie syndrome.

Hurler Syndrome (MPS-IH). (A) Lateral radiograph of the skull shows a large “J”-shaped sella and underdeveloped mastoids. Sinuses are hypoplastic. (B) AP radiograph of the spine and pelvis demonstrates expanded anterior ribs, hypoplastic ilia, and coxa valga. (C) Lateral radiograph of the spine shows hypoplastic vertebrae at the thoracolumbar junction with anterior beaking. (D) Hand radiograph demonstrates thick short metacarpals and phalanges with pointing of the proximal metacarpals.

Mucopolysaccharidosis, type II

Mucopolysaccharidosis type 111 .

Mucopolysaccharidosis type IV.

MPS IV

MPS VI.

MPS VI. Coronal MRI fast spin echo image and spoiled gradient echo image show irregularly enlarged growth plate, with multiple defects and/or erosions.

Multiple epiphyseal dysplasia. Radiographs of the hip (A), left knee (B,C), left foot and ankle (D,E), and left wrist (F) show lack of epiphyseal ossification centers with punctate calcifications in the knee.

Multiple epiphyseal dysplasia in an adolescent. AP and lateral radiographs of the knee (A,B) and ankle (C,D) showing irregular epiphysis with joint deformities.

Metaphyseal dysplasia. Standing radiographs of the knees showing metaphyseal irregularity and flaring with femoral bowing.

Metaphyseal dysplasia.

Metaphyseal chondrodysplasia

Radiographs showing abnormalities (irregularities) in different portions of the skeleton that aid in the diagnosis. A, A/P view of the knee showing irregular metaphyses (arrow) in Metaphyseal Chondrodysplasia—Schmid type. B, A/P view of the pelvis with arrow pointing to very small distal epiphyses in Spondyloepiphyseal Dysplasia Congenita (SEDC). C, A/P view of the knee demonstrating very widened diaphysis in Diaphyseal Dysplasia–Camurati-Hunermann type. D, A/P view of the hand showing shortened metacarpals, phalanges with widened metaphyses (arrow) in acrodysostosis. E, A/P and lateral views of the spine illustrating irregular vertebral margins in Spondyloepiphyseal Dysplasia Tarda.

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.People with Spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and a foot deformity called a clubfoot. Arthritis and decreased joint mobility often develop early in life. People with Spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life.People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes in their facial features. Some infants are born with an opening in the roof of the mouth (a cleft palate) and their cheekbones may appear flattened. Eye problems that can impair vision are common, such as severe nearsightedness (high myopia) and tearing of the lining of the eye (retinal detachment).

Chondroectodermal dysplasia (also known as the Ellis-van Creveld syndrome is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening .Clinical spectrumClinical features include:cleft lip and / or palateepispadias cryptorchidismpolydactyly : tends to be post axiallimb anomalies

short limbs : especially forearm and lower legshort staturesparse, absent, or fine textured hairdental anomalies.

peg teethwidely spaced teethnatal teethdelayed teeth missing teethAssociated congenital cardiac anomalies is present in 50 % of cases.

CHONDROECTODERMAL DYSPLASIA

Achondroplasia.

Achondroplasia.

Radiographs demonstrating abnormalities in the skeleton (pseudoachondroplasia). A, Lateral view of vertebral bodies showing rounded bodies with anterior beaking (arrow) and wide intervertebral disc spaces. B, A/P view of the knee showing irregular metaphyses (small arrow) and irregular, small for age epiphyses (large arrow). C, A/P view of the pelvis. Arrow points to small to almost absent, irregular epiphyses with mild metaphyseal abnormalities at the acetabulum surface and proximal femoral region.

Polyostotic fibrous dysplasia.

Polyostotic fibrous dysplasia

Fibrous dysplasia.

Fibrous dysplasia.

Multiple epiphyseal dysplasia.Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1 in 10,000 births) which affects the growing ends of bones. Bones usually elongate by a process that involves the depositing of cartilage at the ends of the bones, called ossification. This cartilage then mineralizes and hardens to become bone. In MED, this process is defective.Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is also an autosomal recessive form.Signs and Symptoms:Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. A waddling gait may develop. Flat feet are very common. The spine is normal but may have a few irregularities, such as scoliosis. There are very small capital femoral epiphyses and hypoplastic, poorly formed acetabular roofs. Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.

Multiple epiphyseal dysplasia.

Multiple epiphyseal dysplasia.

Multiple epiphyseal dysplasia.

Multiple epiphyseal dysplasia.

Dysplasia epiphysealis hemimelica is a rare skeletal developmental disorder characterized by asymmetric overgrowth of cartilage in the epiphyses. Due to the unusual and variable clinical picture, there is no standardized treatment and evolution is variable. We report the case of an 8 year-old boy, who was referred for the gradual appearance of a mass in the anterior region of the right knee. Plain films matched with dysplasia epiphysealis hemimelica. The histological findings confirmed the diagnosis. Treatment of dysplasia epiphysealis hemimelica is not clearly defined in the literature. However, only surgically symptomatic lesions or those that interfere with the function should be treated. Prognosis is variable and depends on the location and size of the lesion. Due to the risk of recurrence, patients with this unusual dysplasia should be monitored on a regular basis.

Dysplasia epiphysealis hemimelica (Trevor-Fairbank disease).

Dysplasia Epiphysealis Hemimelica.

Du Pan Syndrome causes skeletal abnormalities and short stature. In this disease, the GDF5 gene responsible for regulating cell growth and differentiation is defective. Individuals with Du Pan Syndrome have typical trunk size but shortened limbs. Fibulae, the smaller of the two long bones that join the knee to the ankle, are rudimentary or absent. Knees and ankles are contorted. In addition, fingers are stumpy and bent in atypical directions. Thumbs and toes are small, button-like, and non-functional. Affected individuals are of typical intelligence.

Du Pan syndrome is very rare, with less than 30 cases reported. Therefore, incidence of this condition is thought to be less than 1 in 1,000,000. Almost all the affected individuals reported have been from Middle Eastern countries.

Prognosis is generally favorable. Skeletal symptoms may be progressive with age and growth. However, affected individuals are of typical intelligence and do not have a shortened lifespan.

An Egyptian patient with du Pan syndrome. Note absence of both fibulae (A), X-ray of both hands and feet showing severe brachydactyly and radial deviation of fingers (B, C).

Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood

Diastrophic Dysplasia

Diastrophic dysplasia.

Proximal femoral focal deficiency (PFFD) is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.It is commonly linked with the absence or shortening of a leg bone (fibular hemimelia) and the absence of a kneecap. Other linked birth defects include the dislocation or instability of the joint between the femur and the kneecap, a shortened tibia or fibula, and foot deformities.

Classifications:There are typically four classes (or types) of PFFD, ranging from class A to class D, as detailed by Aitken

Pathology:The etiology of this disorder is uncertain. The diagnosis and classification have been based mainly on plain film findings. This method does not permit definite classification during the 1st year of life. Associations:asbent patella.

Proximal focal femoral deficiency.

Proximal focal femoral deficiency.

Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.

Axial CT scan at the level of the occiput/C1 demonstrating the odontoid peg migrating into the foramen magnum; (B) sagittal CT scan demonstrating C1 subluxation on C2 with migration of the odontoid peg into the brainstem; and (C) sagittal T2-weighted MRI demonstrating anterior subluxation of the occiput on C1 by 5 mm, anterior subluxation of C1 on C2 by 11 mm, and severe canal stenosis.

Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

Both hands show small fourth finger in a case of Turner syndrome.

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