▪ Soft tissue structure/bone growth/
▪ Isolated, or + associated anomalies
▪ Disease-dependent malformations
▪ Conservative treatment (e.g. occupational
▪ Rare, non-progressive congenital disorder
▫ AKA arthrogryposis multiplex congenita
▪ Decreased fetus movement in utero →
fi brous connective, adipose tissue replaces
muscle tissue → muscle shortening →
joints fi xed → affected joints unable to
▪ Potential associated syndrome/disease
(e.g. pulmonary hypoplasia, cryptorchidism,
intestinal atresia, gastroschisis)
▪ Intelligence typically normal
▪ Most common type; sporadic cases
▪ Four limbs involved symmetrically
▪ Potential specifi c gene defect association
▪ Primary neurological/muscle disease
Figure 117.1 Contractures in the hands of an
individual with arthrogryposis.
▪ Congenital malformations present
▪ Typically affects all joints (potentially leg/
▪ Affected joints contracted (fl exion/
▪ Muscle weakness (especially amyoplasia)
▫ Low mobility/abnormal fetus position
▪ Test for cause (e.g. chromosomal microarray
analysis for chromosomal abnormalities,
muscle biopsy for myopathic disorders)
▫ Increase joint mobility, muscle strength,
adaptive use pattern development
▪ Limb movement-enhancing devices
▪ Neurologic disorder (e.g. anterior horn
▫ Uterine malformation (e.g. intrauterine
▫ Multiple gestation pregnancy
▫ Amniotic fl uid volume low/abnormally
▪ Maternal disorder (e.g. multiple sclerosis)
▪ Genetic disorder (e.g. spinal muscular
▪ Muscle/connective tissue disorder (e.g.
▪ Psychosocial effects (e.g. shame,
Chapter 117 Musculoskeletal Congenital Malformations
Figure 117.2 A neonate with club feet.
▪ Common congenital malformation; one/
▫ Feet, calf, peroneal muscles’ medial side
▪ Isolated or can be associated with
developmental dysplasia of hip, Larsen
syndrome (+ other hip, knee, elbow
malformations), spina bifi da, arthrogryposis
▪ Affects bones, muscles, tendons, blood
▪ Additional anatomic malformations and/or
chromosomal/genetic abnormalities
▪ Fetal position (e.g. breech presentation),
often restrictive uterine environment (e.g.
▪ Chromosomal/genetic abnormalities
▪ Biologically male (2:1 male:female)
▪ Multiple gestation pregnancy
▪ Fetal neuromuscular disorders
▪ Individuals walk on feet sides (typically)
▪ Affected foot potentially smaller
▪ Walking diffi culty/inability
osms.it/congenital-hip-dysplasia
▪ Congenital malformation; abnormal
acetabulum, proximal femur development
→ hip joint mechanical instability
▫ AKA developmental hip dysplasia/
▪ Joint ligament laxity/abnormal utero
positioning → abnormal development,
contact between acetabulum, femoral head
▪ Possible conditions associated (e.g. Ehlers–
▪ Femoral head completely outside
▪ Femoral head partially outside acetabulum
▪ Femoral head within acetabulum at rest,
examination maneuvers dislocate easily
▪ Femoral head loose within acetabulum,
examination partially dislocates (mildly
▫ Karyotype detects chromosomal
▪ Sometimes required (e.g. Achilles tenotomy
▫ Bracing, proper foot positioning, casting
▪ Femoral head outside acetabulum at rest,
maneuvers can locate within acetabulum
▪ Abnormally-shaped hip joint (usually
▪ Other anomalies present (e.g. congenital
torticollis, congenital foot malformation)
▪ Affected leg shorter, painful hip joint
▪ Decreased motion range → restricted hip
Chapter 117 Musculoskeletal Congenital Malformations
▪ Usually unilateral, left hip ↑ affected (20%
▫ Ortolani maneuver: infant supine, hips/
anteriorly → dislocated femoral head
slides back into acetabulum → palpable/
▫ Barlow maneuver: infant supine, hips/
anteriorly → femoral head slides out of
▪ Asymmetric thigh, groin skin creases
▫ Knee height difference when infant
supine (hips fl exed, knees bent, feet on
examining table) posterior displacement
in dysplastic hip → affected side’s knee
▪ Adductor spasm → limited hip abduction
▪ To detect abnormal acetabulum
development, femoral head position
▫ Obtain, maintain concentric hip
▫ Device holds affected hip abducted,
externally rotated (e.g. Pavlik harness)
Figure 117.3 A plain radiograph of the pelvis
of an infant with severe congenital hip
dysplasia. There is complete dysplasia of
both acetabula and superior dislocation of the
Figure 117.4 Facial features of an child with
craniosynostosis in Apert syndrome.
▪ Premature calvarial suture closure →
▪ Abnormal dural attachments → tensile
forces prevent bone growth → early suture
▫ ↓ in perpendicular direction to fused
▫ ↑ in parallel direction to accommodate
▪ Most cases isolated, sporadic; possibly
genetic syndrome (e.g. Apert syndrome,
▪ Classifi ed by affected suture
▫ Vomiting, papilledema, headache
▪ Vision, hearing, speech, feeding
▪ Abnormal head shape → psychosocial
▪ Phenotypes: variable head shape, facial
▫ Sagittal suture fused → narrow, long
skull (scaphocephaly/dolichocephaly)
▫ Coronal/lambdoid sutures fused →
diagonal skull malformation, asymmetric
▫ Metopic suture fused → narrow,
triangle-shaped forehead + prominent
midline ridge (trigonocephaly)
Kleeblattschädel anomaly/microcephaly
▫ Coronal sutures fused bilaterally →
short, broad skull (brachycephaly)
▫ Coronal suture fuses + any other suture
Chapter 117 Musculoskeletal Congenital Malformations
Figure 117.5 Syndactyly seen in an individual
with Apert syndrome, which also causes
▪ Identify fusion, malformation extent
▪ Cephalometry → precisely measure head
▪ Genetic testing → identify mutations
▪ Funduscopy → detect papilledema
▪ Reconstruct craniofacial structure
▪ Common malformation; moderate/complete
▫ AKA pes planus/fallen arches
▪ Children: abnormal foot muscle, tendon,
▪ Adults: ↑ activity of proteolytic enzymes →
break down muscle tendons → foot arch
▪ ↓ tarsal and subtalar joint range of motion +
arch does not increase with toe raising
PATHOLOGY & CAUSES Flexible pes planus
▪ Physiologic or pathologic causes related
to associated conditions (e.g. ligamentous
laxity, foot muscle motor weakness, bony
abnormalities, generalized syndromes)
▫ Calcaneovalgus heel (depressed
longitudinal arch that is associated with
varying amounts of heel eversion)
▫ Lax ligamentous and tight heel cords
▫ Involves tibialis posterior tendon
▫ Often seen in dancers, ice skaters,
athletes (e.g. basketball, tennis, soccer,
▪ Normal foot arch absent (fl at)
▪ Foot sole presses ground almost completely
▫ ↑ inward foot roll (overpronation)
▪ May involve foot, ankle, knee, hip, back pain
▪ Loose connective tissue (e.g. Ehlers–Danlos
▪ Neuromuscular conditions (e.g. cerebral
▪ Tarsal coalition (abnormal tarsal bone
▪ Increasing age (relatively common in
biologically-female individuals > 40 years
▪ Progress to high arches (adolescence)
Figure 117.6 Complete collapse of the
longitudinal arch has resulted in complete
contact of the sole of the foot with the
▫ Individual wets feet, stands on paper →
▪ Talonavicular coverage angle → abnormal
▪ ↓ calcaneus, inferior foot angle (calcaneal
▪ ↑ long talus axis, fi rst metatarsal bone angle
▫ Anterior tubular elongation of the
superior calcaneus; approaches/
overlaps the navicular indicated
▪ Sometimes unnecessary (arch may
▪ Resection of abnormal bridge of bony,
cartilaginous, or fi brous tissue (e.g.
▫ Orthotics (insoles stop inward roll)
Chapter 117 Musculoskeletal Congenital Malformations
▪ Knee malformation: knees bend towards
▫ Typically resolves by age nine
▫ Knee joint’s proximal portion bends
▫ Knee joint’s distal portion bends
▪ Can’t touch knees, feet together
▪ Both legs (hips to feet) in standing position
Figure 117.7 An individual with genu valgum
of the left leg secondary to surgery and
radiotherapy to treat a synovial sarcoma of
the lateral distal femoral epiphysis as a child.
The medial epiphysis continued to grow
whilst growth of the lateral epiphysis was
▪ Treatment of underlying causes (e.g.
▪ If malformation persists after age 10
▫ Medial distal femoral epiphysis stapling
Figure 117.8 An X-ray image of the affected
knee. The medial head is much larger than
▪ Most common knee malformation: knees
▪ Physiologic (birth to 18 months)
▪ Vitamin D defi ciency (e.g. rickets)
▪ Other musculoskeletal conditions (e.g.
▪ Infection/tumors/lower extremity fracture →
▫ Knee’s distal portion bends inwards
▫ Proximal portion bends outwards (like
▪ Both legs (hips to feet) in standing position
Chapter 117 Musculoskeletal Congenital Malformations
Figure 117.9 An X-ray image of a child with
rickets displaying genu varum.
▪ Congenital thoracic wall malformation:
▫ Most common anterior chest wall
▪ Abnormal sternum, rib cage growth
▫ Possibly: increased intrauterine
pressure, increased sternum traction,
abnormal cartilage development
▪ Treatment of underlying causes (e.g.
▪ Biologically male (3–5:1 male:female)
▪ Connective tissue disorders (e.g. Marfan
▪ Genetic conditions (e.g. Noonan syndrome)
▪ Congenital diaphragmatic hernia
▪ Cardiorespiratory function impairments
▫ Chest malformation: sternum’s lower
end depressed, lower ribs may protrude,
▫ Shortness of breath, tachypnea
▪ Determine severity; assess lung, heart
▪ Some cases resolve spontaneously (usually
▪ Moderate/severe pectus excavatum
Figure 117.10 An individual with pectus
Figure 117.11 A CT scan of the chest in the
axial plane demonstrating pectus excavatum.
▫ Normal forced vital capacity
▫ Total lung capacity, residual volume may
▪ Cardiology exams (e.g. electrocardiogram,
▫ Abnormalities if heart compression,
▫ Impairment severity correlates with
Chapter 117 Musculoskeletal Congenital Malformations
▪ Common developmental variation: toe
▪ Typically resolves spontaneously
▪ Results from intrauterine molding
▪ Metatarsus adductus (most common in
▪ Internal tibial rotation (most common
▪ Increased femoral anteversion (most
common in children > three years old)
▪ Long-term functional problems (rare)
▪ Abnormal toe rotation when walking/
▫ Metatarsus adductus: inward forefoot
▫ Tibial torsion: inward shin bone twisting
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