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BIRTH DEFORMATIONS

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Title: BIRTH DEFORMATIONS


1
BIRTH DEFORMATIONS
2

3
INTRODUCTION 
  • Positional deformations abnormalities
    mechanically produced by alterations of the
    normal fetal environment, which restrict fetal
    movement and/or cause significant fetal
    compression.
  • Deformations of the extremities occur frequently
    because fetal movement is required for normal
    musculoskeletal development.

4
Presentations Deformations
  • Craniofacial abnormalities
  • -scaphocephaly, -plagiocephaly
  • -mandibular asymmetry, -flattened facies
  • -deviated nasal septum, -ear abn.
    craniosynostosis
  • Congenital musculartorticollis
  • Congenital scoliosis
  • DDH
  • Lower extremity abnormalities (foot leg)
  • -metatarsus adductus, -internal
    tibial torsion
  • -positional calcaneovalgus feet-external
    tibial torsion
  • -positional clubfoot
    -physiologic genuvarum

5
ETIOLOGY DEFORMATIONS
  • -intrinsic factors risk for other fetal
    abnormalities
  • -CNS disorder primary neuromuscular Dz
    resulting in decreased fetal movement.
  • -renal Dz resulting in decreased production
    of amniotic fluid oligohydramnios, which
    increases the risk of fetal compression from
    outside forces.
  • -extrinsic factors generally otherwise healthy,
    primarily due to factors that lead to fetal
    crowding restricted fetal movement.

6
Extrinsic Factors
  • Oligohydramnios from leakage of amniotic fluid
  • Breech position movement of the fetal legs are
    restricted due to entrapment between the body of
    the fetus the uterine wall,
  • the risk of deformations x10 folds.
  • Abnormalities of the amniotic cavity
  • - the presence of uterine tumors or
    deformities
  • (eg, bicornute uterus or septated uterus)
  • - Multiple fetuses or very large fetus
  • - Compression of the amniotic cavity
    affecting its size and shape
  • due to a small maternal pelvis and the
    size of neighboring
  • maternal organs
  • - During the last trimester the impact of
    external factors increases as the fetus grows
    and the amniotic fluid decreases. As a result,
    positional deformities are more common in term
    infants than PT

7
The assessment of deformities in the NB
  • a thorough PE detect any neurological or other
    musculoskeletal abnormality that may have been an
    intrinsic cause of the deformity.

8
Foot Bones
  • 1.Fibula
  • 2 Tibia
  • 3.Tarsals
  • 4.Metatarsals
  • 5.Phalanges

9
Foot Bones
10
  • FOOT BONES
  • 1.Calcaneus
  • 2.Talus
  • 3.Navicular
  • 4,5,6 3 Cuneiforms,
  • 7.Cuboid,
  • 8-12 Metatarsal
  • 13-17 Phalanges
  • (2sesamoid bones underneath the head of 1st
    metatarsal bone)
  • (total 28 bones/foot)

11
LOWER EXTREMITY DEFORMATIONS  
  • Incidence 4.2 (in 2,401 consecutive NB)
  • Common foot deformities
  • -metatarsus adductus 76, most common
  • -positional calcaneovalgus 18
  • -positional calcaneovarus (talipes
    equinovarus,clubfeet)
  • Common leg deformities
  • -internal tibial torsion
  • -external tibial torsion
  • -physiologic genu varum bow legs)
  • gt90 normal feet, FU at 5-6 yrs. of age

12
1.Metatarsus adductus 
  • PE forefoot, adduction while the
  • hindfoot remains in a normal position, thus
    forming a
  • "C" shape (concavity of the medial aspect of
    the foot)
  • a deep medial crease generally present
  • -in infant the most common cause of
    in-toeing
  • -in walking child abnormal shoe wear
  • Incidence 1-2 /1,000
  • similar in PT term infants
  • increased in
  • -twin
  • -F/H metatarsus adductus.
  • -in 1st born children (the increased
    molding
  • effect from the primigravida uterus and
    abd.wall)

13
Metatarsus adductus
  • Two classification systems have been used to
    evaluate the severity of this condition

14
  • Two classification systems have been used to
    evaluate the severity of this condition (show
    figure 1) 8 .

15
Metatarsus adductusseverity
  • 1.the heel bisector. in which the severity of
    metatarsus adductus is determined by the
    relationship of the toes to the projected axis of
    the foot that bisects the heel and normally
    extends through the second toe. The severity of
    the condition increases as the heel axis moves
    more laterally in relationship to the toes.
    However, the severity based upon this
    classification schema does not correlate with the
    prognosis.
  • 2.the degree of flexibility of the forefoot.
    Flexibility is based upon the ability to correct
    the metatarsus adduction by providing lateral
    pressure on the forefoot over the first
    metatarsal while firmly holding the heel in a
    neutral position with the other hand. In infants
    with flexible metatarsus adductus, spontaneous
    correction generally occurs.
  • Rx is reserved for those with rigid (severe) or
    moderately inflexible metatarsus adductus.

16
Metatarsus adductus
  • Recent data no association between DDH
    metatarsus addusctus. (Hip exam. at every WCC
    visit until 2 yrs. of age).
  • X-rays-generally not necessary.
  • -toddlers/older children with
    persistent deformity to determine if another
    condition, such as skewfoot (complex foot
    deformity medial deviation of the forefoot,
    lateral translation of the midfoot valgus
    hindfoot

17
Rx for metatarsus adductus
  • Over 90 resolve without Rx, the
    severitythe flexibility
  • Mild- can overcorrect into abduction with little
    effort..
  • Rx not necessary spontaneously resolve over
    time,
  • Overcorrection with passive active
    stretching may lead to mild abduction, stretching
    exercise should not be performed
  • Moderate--will passively correct only to the
    neutral position.
  • Passive stretching exercises orthotic
    splint or corrective recommended, unclear
    efficacy
  • Regular FU and casting if no improvement
  • Severe or rigid- unable to be passively abducted
    to the midline. In these cases, corrective
    casting is required. Results are best with early
    Rx before 8 m. of age

18
Rx of metatarsus adductus x
  • Without Rx or non-surgical Rx excellent results
    in all patients with mild deformity without
    treatment and in 90 of the more severely
    affected feet 31 patients (45 feet) with
    metatarsus adductus who were followed for a mean
    of 32.5years. At initial presentation,12 patients
    (16 feet) with mild deformity received no Rx, and
    20 patients (29 feet) with moderate and severe
    deformity were treated with serial manipulation
    and casting, one patient had bilateral
    involvement with no treatment on one foot and
    intervention on the other. No patient was treated
    with surgical correction.
  • Below-knee plaster casting of 65 infants with
    moderate (37 feet) and severe (48 feet)
    metatarsus adductus, corrected the deformity
    within 6-8 wk in all cases. At a mean FU of 4
    yrs, correction was maintained in all children
    with initial moderate deformity and of the 44
    feet with severe deformity available for
    examination, 6 had a moderate deformity, 1 had a
    severe deformity, and the remaining maintained
    the correction .
  • Surgical correction controversial,may be an
    option for the older child with persistent
    metatarsus adductus, however the reported
    incidences are high for failure (40)
    complications (50) . Complications include skin
    slough and persistent pain with prominence of the
    tarsal metatarsal jts.

19
2.Positional calcaneovalgusfeet
  • hyperdorsiflexion of the foot with the abduction
    of the forefoot, which often results in the
    forefoot resting on the anterior surface of the
    lower leg.
  • External tibial torsion a common
    asso.finding
  • more common in first-born children due to the
    increased molding effects of the primigravida
    uterus.

20
Positional calcaneovalgus (talipes
calcaneovalgus)
newborn infant at rest
                                      
21
Positional Calcaneovalgus feetDDxmandatory
  • DDx more severe conditions
  • -Congenital vertical talus (rock bottom feet)
    rare condition, frequently associated with
    neuromuscular genetic disorders (eg, trisomy
    13,14,15), a fixed dislocation of the navicular
    dorsolaterally on the head of the talus. The
    ability to correct (or partially correct) the
    deformity with gentle pressure usually
    distinguishes the more flexible calcaneovalgus
    feet from the rigid congenital vertical talus.
    X-rays, if PE is inconclusive.
  • -Paralytic calcaneus foot deformity is seen in
    infants with a neuromuscular disorder (eg,
    myelodysplasia or polio), which results in the
    absence or paralysis of the gastrocsoleus muscle.
    The PE to detect a motor deficit should
    differentiate between paralytic positional
    calcaneovalgus feet.
  • -Posteromedial bow of the tibia both a
    calcaneovalgus foot a bowed, shortened tibia.
    PE a leg-length discrepancy. Bowing of the tibia
    (X-rays)
  • Rx Most cases of positional calcaneovalgus feet
    spontaneously resolve.
  • If the foot cannot be plantar-flexed below
    neutral, casting is indicated. Surgical Rx is not
    required.

22
3. Positional clubfoot (talipes equinovarus)
  • involves both foot lower extremity,
    footexcessively plantar flexed, with forefoot
    swung medially and the
  • sole facing inward.

23
CLUB FEETCLASSIFICATIONS
  • 1.Congenital clubfoot
  • the most common type, usually an isolated
    anomaly
  • 2.Syndromic clubfoot associated with intrinsic
    etiologies of clubfeet connective tissue,
    genetic, neuromuscular disorder, or syndrome
  • 3.Positional clubfoot due to intrauterine
    crowding or breech position, not a true club
    foot, as opposed to a true clubfoot, it easily
    corrects to a normal position with manipulation
    will resolve over time.

24
Etiologies of clubfoot
  • Intrinsic
  • -Chromosomal Trisomy18, Deletions of
    chromosomes 18q, 4p, 7q, 9q, 13q
  • -Connective tissue Arthrogryposis, Collagen
    defects, Joint synostosis
  • -Neurologic Anencephaly, Anterior motor
    horn cell deficiency, Hydrancephaly,
    Holoprosencephaly, Myelomeningocele, Spina bifida
  • -Muscular MyopathyMyotonic dystrophy
  • -Skeletal dysplasia Campomelic dysplasia,
    Chondrodysplasia punctata Diastrophic dysplasia,
    Ellis-van Creveld
  • -Syndromes Escobar syndrome, Hecht
    syndrome, Larsen syndrome,
  • Meckel-Gruber syndrome, Multiple
    pterygium, Pena Shokeir, Smith-Lemli-Opitz,
    Zellweger syndrome
  • Extrinsic
  • -Amniotic bands or synechiae
  • -Early amniocentesis
  • -Intrauterine crowding
  • Fibroids, Multiple gestation,
    Oligohydramnios (Potter sequence)
  • -Malposition Breech

25
ROTATIONAL DEFORMITIES OF THE LEGS
  • Rotational variations of the foot position to the
    leg often occur in younger children due to
    in-uterine positioning. In utero, the fetus's
  • Hips typically flexed, abducted, externally
    rotated, lower legs internally rotated and the
  • knees flexed. With intrauterine crowding
    and mechanical restriction, this
  • position predisposes the fetus
  • to rotational deformities
  • int. ext. tibial torsion
  • and ext.rotation of the
  • hips, which may result in
  • physiologic genu varum.

26
4. Internal tibial torsion 
  • -a normal rotational variant
  • due to intrauterine positioning,
  • -the most common cause of in-toeing
  • -may also be associated with
  • metatarsus adductus genuvarum
  • -2/3 bilat.
  • -In unilat. cases the lt. side is more
  • frequently affected.

27
TFA (The thigh-foot angle)
  • the angular difference
  • between the axis of
  • the foot and thigh
  • when the patient is in
  • prone position with
  • knees flexed 90 degrees,
  • foot ankle neutral position
  • The normal TFA 10 to 15 degrees.
  • Internal tibial torsion negative TFA

28
Rx Internal Tibial Torsion
  • Spontaneous resolution of internal tibial torsion
    occurs with ambulation and normal growth, so no
    intervention is generally required. Improvement
    is typically observed 6-12 mos. from the time the
    child walks, and complete resolution is expected
    in most children by 4 years of age.
  • Surgical Rx is rarely indicated and is reserved
    for the older child with marked functional or
    cosmetic deformity (ie, thigh-foot angle is
    abnormally negative, with values below
    -10degrees).

29
5. External tibial torsion 
  • -a normal rotational variant due to intrauterine
    positioning
  • -the most common cause of out- toeing in infants
    young children
  • -usually identified when the child begins to
    walk.
  • -often accompanied by positional calcaneovalgus.

30
PE External Tibial Torsion
  • The normal TFA 10 to 15 degrees
  • .
  • External tibial torsion
  • the TFA is abnormally positive
  • with values 30 to 50 degrees
  • .
  • .

31
Rx External Tibial Torsion
  • This condition typically follows a similar course
    of internal tibial torsion, with spontaneous
    resolution over time. However, disability (eg,
    knee pain patellofemoral instability) is more
    common in children with persistent external
    tibial torsion than in those with internal tibial
    torsion. Increased external tibial torsion is
    also associated with neuromuscular disorders
    including myelodysplasia and polio. As a result,
    a careful neurologic examination should be
    performed in patients with this finding.
  • As with other positional deformities,
    intervention is usually not required as the
    majority of affected children will have
    spontaneous resolution. Significant improvement
    does not occur until the child has achieved
    independent ambulation. External tibial torsion
    is more likely to persist through adolescence
    than internal tibial torsion.
  • Surgical Rx is rarely indicated and is reserved
    for the older child with marked functional or
    cosmetic deformity (ie, thigh-foot values gt 40
    degrees).

32
6. Physiologic genu varum (bowlegs)
  • Common due to intrauterine positioning, caused
    by a combination of external rotation at the hip
    due to the tight posterior hip capsule internal
    tibial torsion, typically identified in the older
    infant or toddler shortly after the start of
    ambulation.
  • Usually bilateral, the severity between the limbs
    may vary. In-toeing is generally seen during
    ambulation. During ambulation, the child may
    compensate for his in-toeing by externally
    rotating the tibia to put the foot in a neutral
    position. This causes further external rotation
    of the femur and subsequent exaggeration of the
    deformity.
  • Spontaneous resolution occurs between 18-22 mos.
    with stretching of the hip capsule and resolution
    of the internal tibial torsion.

33
Bowlegsgenu varum
  • A pathologic disorder more likely if worsening
    during infancy, unilateral, knee instability, or
    pain.
  • Pathologic causes Blount's disease (tibia vara),
    rickets, and fibrous dysplasia.
  • Hx, PE full-length bilat. standing radiographs
    can DDx
  • physiologic vs. pathologic (requires Rx) genu
    varum
  • In Blount's dz, the most common
  • cause of pathologic genu varum,
  • the characteristic radiographic finding
  • is acute medial angulation (beaking)
  • of the proximal medial metaphysis
  • of the tibia.(may not be present until
  • 2-3 y.of age.)

34
Genu valgum (Knock knees)
  • Physiologic self correction age4-6y.
  • Intermalleolar distance
  • normal lt2cm
  • severe gt10cm
  • Pathologic
  • -Metabolic bone dz (rickets, renal
    osteodystrophy)
  • -Skeletal dysplasia
  • -Post traumatic physeal arrest
  • -Tumor
  • -Infections osteo.

35
Rx Knock Knees
  • Unlikely to correct if
  • gt15 cm after 6 y. of age
  • Surgical Rx in
  • -skeletally immature surgical Rx medial tibial
    epiphyseal hemiepiphysiodesis
  • -skeletally mature osteotomy at the center of
    rotation of angulation is usually in the
    distal femur
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