Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant
dysplasia. (A) AP
view of the skull
along the suture
lines. (B) AP view of
the upper chest
showing an absent
right clavicle and
(arrow) on the left.
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
Mucopolysaccharidosis type I Hurler-Scheie syndrome.
Hurler Syndrome (MPS-IH).
(A) Lateral radiograph of
the skull shows a large “J”-
shaped sella and
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
vertebrae at the
with anterior beaking. (D)
demonstrates thick short
metacarpals and phalanges
with pointing of the
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.
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
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
Clinical features include:
cleft lip and / or palate
polydactyly : tends to be post axial
short limbs : especially forearm and lower leg
sparse, absent, or fine textured hair
widely spaced teeth
Associated congenital cardiac anomalies is present in 50 % of cases.
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.
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
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.
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.
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
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
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.
There are typically four classes (or types) of PFFD, ranging from class A to
class D, as detailed by Aitken
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.
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.