BIRTH DEFORMATIONS

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BIRTH DEFORMATIONS
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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.

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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

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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.

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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

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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.

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Foot Bones

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

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Foot Bones
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• 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)

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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

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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)

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Metatarsus adductus

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

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

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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.

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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

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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

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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.

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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.

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Positional calcaneovalgus (talipes
calcaneovalgus)
newborn infant at rest
                                      
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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.

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3. Positional clubfoot (talipes equinovarus)

• involves both foot lower extremity,
  footexcessively plantar flexed, with forefoot
  swung medially and the
• sole facing inward.

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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.

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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

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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.

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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.

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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

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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).

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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.

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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
• .
• .

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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).

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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.

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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.)

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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.

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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