Poland Syndrome, Sprengel Deformity & Radial Longitudinal Deficiency (RLD)

Poland syndrome

Essential Information:
This is a condition where one side of the body has underdeveloped chest wall musculature along with additional anomalies which may affect the ipsilateral shoulder, arm and/or hand.
  • Etiology
    • Cause is unknown
    • ? disruption of blood flow during week 6 of embryologic development
      • Subclavian artery supply disruption sequence (SASDS)
  • Genetics
    • No specific gene identified
    • Most cases are sporadic
    • Rare reports of familial Poland syndrome (possibly autosomal dominant)
  • Incidence
    • About 1 in 20,000-30,000 newborns
    • Possibly under-reported due to mild cases
    • Right side is more common
  • Risk Factors
    • None identified
    • Associated with Mobius and Klippel-Feil syndrome, Sprengel deformity, lymphoma
  
Clinical Evaluation:
  • History / Exam Findings
    • Chest wall
      • Absence of sternal head of pectoralis major
      • Surrounding skin may show a thinned subcutaneous layer
      • Ipsilateral nipple is smaller
      • Females show hypoplastic breast tissue
    • Shoulder
      • Scapula may be small, elevated
    • Arm
      • May be smaller, hypoplastic
    • Hand
      • Varying degrees of hypoplasia and brachydactyly
      • Syndactyly
  • Imaging / Lab Studies
    • Chest CT for chest wall anomalies – if suspected
    • Evaluation of lymph nodes
  • Classification Schemes
    • based on hand anomaly: Al-Qattan (2001)
    • based on hand and upper limb anomalies: Catena (2012)
Treatment:
  • Conservative
    • Most patients are highly functional , with minimal deficits
  • Surgical
    • Hand
      • Syndactyly repair
      • ? lengthening of shortened digits
    • Breast
      • Reconstruction / implant
    • Chest wall deformity
      • Latissimus dorsi transfer
 
Outcomes:
  • Prognosis
    • generally good, with few functional deficits
  • Potential Complications
    • as related to surgical procedures as noted
 
 
Recommended Readings
  • Al-Qattan M.Classification of Hand Anomalies in Poland’s Syndrome. Br J Plast Surg.2001
  • Catena N, Divizia M, et al.Hand and Upper Limb Anomalies in Poland Syndrome: a new proposal of classification.J Pediatr Ortho. 2012

Sprengel Deformity

 Essential Information: 
 This congenital anomaly is characterized by malposition and dysplasia of the scapula.  There can also be associated abnormal muscle or bony connections from the scapula to the cervical spine.
  • Etiology
    • interruption in the normal descent of the scapula that occurs sometime between 9-12 weeks post gestation
  • Genetics
    • sporadic mutation (rare familial patterns reported)
  • Incidence
    • occurs in males 3 times more commonly than females
    • 10-30% of cases are bilateral
  • Risk Factors
    • may be associated with:
      • Klippel-Feil syndrome
      • congenital scoliosis
      • Poland syndrome
      • VATER association
  
Clinical Evaluation:
  • History / Exam Findings
    • trapezius, rhomboid, or levator scapulae can be hypoplastic or absent
    • scapular winging (may actually be medial rotation of the scapula)
    • fibrous adhesion or bone connections (omovertebral bone) may occur between the scapula and cervical spine
    • left side more commonly affected
    • loss of shoulder abduction, limitation of neck motion
  • Imaging / Lab Studies
    • x-rays
      • shoulder morphology
      • spinal anomalies
    • CT scan
      • for 3 dimensional scapula morphology
      • cervical spine anomalies
      • assess for omovertebral bone
    • MRI
      • associated fibrous interconnections of scapulato spine
      • assess vertebral anomalies
         
  • Classification Schemes
    • Radiographic (Rigault, 1976)
      • Based on position of superomedial angle of scapula relative to the spine
    • Clinical appearance - Cavendish Grades (1972)
      • I – very mild:
        • shoulders nearly level, deformity can not be noticed with clothing on
      • II – mild:
        • No shoulder asymmetry, medial ‘bump’ noticeable
      • III – moderate:
        • shoulder elevated 2-5 cm compared to other side
      • IV – severe:
        • scapula very high, neck webbing present
Treatment:
  • Conservative
    • physical therapy to maintain shoulder motion / strength
  • Surgical
    • designed to address specific anatomic anomalies
      • resect abnormal bone/fibrous connection to cervical spine
      • detach/reattach medial parascapular muscles with inferior mobilization of scapula and abduction of shoulder
      • osteotomize ipsilateral clavicle to prevent tension on brachial plexus
Outcomes:
  • Prognosis
    • With surgery:
      • shoulder abduction can be improved
      • clinical appearance (Cavendish grades) can be improved
  • Potential Complications
    • Wound complications
      • Large wound, possible infection
      • Large post-surgical scar
    • Brachial plexus injury
 
 

Recommended Readings
  • Cavendish ME. Congenital elevation of the scapula. . 1972 Aug. 54(3):395-408
  • Green WT.The surgical correction of congenital elevation of the scapula Sprengel’s deformity).JBJS (Am) 1957; 39: 1439.
  • Woodward JW. Congenital elevation of the scapula: correction by release and transplantation of muscle origins.JBJS (Am) 1961; 43: 219-228.

 

 

Radial Longitudinal Deficiency (RLD)

 Essential Information:
This congenital anomaly is the most common longitudinal deficiency that presents with varying degrees of radial-sided dysplasias (and absences) of the thumb, wrist, and forearm.
  • Etiology
    • unknown; however may be related to developmental vascular insufficiency, intrauterine compression, maternal drug exposure
  • Genetics
    • most cases are sporadic mutations
    • however, some inheritance patterns identified when associated with syndromes
  • Incidence
    • approximately 1 in 30,00 live births
  • Risk Factors
Can be seen with:
  • VACTERL(sporadic)
  • Holt-Oram syndrome (autosomal dominant)
  • Fanconi Anemia (autosomal recessive)
  • thrombocytopenia absent radius (TAR syndrome – autosomal recessive)
Clinical Evaluation:
  • History / Exam Findings
    • critical to evaluate patient for associated conditions (anomalies) seen in as many as 66% of patients with RLD
      • spine: scoliosis, vertebral anomalies
      • cardiac evaluation
      • renal ultrasound
      • GI evaluation (tracheoesophageal fistula, anal atresia)
    • upper extremity findings – wide range of manifestations
      • thumb
        • degrees of hypoplasia to aplasia
        • function is variable
      • wrist
        • radially deviation with variable loss radial carpal bones
        • some flexion / extension can be preserved
      • forearm
        • see general shortening with variable amounts of radial bowing
        • limited forearm rotation
        • radius is highly variable in length (see classifications)
  • Imaging / Lab Studies
    • plain radiograph of entire upper extremity
      • comparison views may be helpful
    • CBC
    • chromosome fragility test (for Fanconi anemia)
    • genetics testing
  • Classification Schemes
Most clinicians use a combination of the classic ‘thumb’ and ‘forearm’ systems (aka. Modified Bayne and Klug Classification (see James, 1999))
  • Thumb Classification – Blauth (modified by Buck-Gramcko)
    • I – normal thumb, but small
    • II – small thumb, webspace decreased, possible MP instability
    • IIIA – short thumb, contracted webspace, MP unstable, absent thenar muscles, but CMC joint stable
    • IIB – as in IIIA, but CMC joint is unstable
    • IV – rudimentary thumb attached by a small skin bridge (pouce flottant)
    • V – complete thumb absence (aplasia)
  • Forearm Classification – Bayne and Klug
    • I – shortened radius (distal physis affected)
    • II – grossly short radius (both physes affected)
    • III – partial absence of radius (proximal or distal)
    • IV – complete absence of radius (most common type)
Treatment:
  • Conservative
    • stretching and splinting is begun as soon as possible, try to get passive correction of wrist deformity
    • non-surgical management advised if:
      • minimal deformity
      • coexisting medical conditions preclude surgery
      • elbow extension contracture
  • Surgical (general principles)
> Treatment goals are to optimize hand position and function
  • wrist position
    • if good elbow flexion, then wrist centralization can be considered (motion of the wrist is usually compromised however)
      • skin coverage after centralization is usually addressed by rotation flap (see Van Heest, 2007)
    • if elbow extended, the wrist in a deviation may be preferred to allow for easier hand to mouth access
  • forearm length/position, can be addressed by:
    • corrective osteotomies of ulnar bow
    • distraction lengthening of ulna
  • thumb function
    • similar principles as applied in hypoplastic thumb discussion
Outcomes:
  • Prognosis
    • as related to the upper extremity, the prognosis is usually good – if a stable hand with good pinch and grasp is achieved
  • Potential Complications
    • potential suboptimal function following pollicization
    • loss of correction following wrist centralization procedures
    • complications of distraction lengthening
      • pin site infection
      • delayed bone regenerate healing
      • neurovascular compromise
 
 

Recommended Readings
  • Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg 2006;31A:1176–1182 
 
  • James MA, McCarroll HR Jr, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg 1999; 24A:1145–1155. 

  • VanHeest A, Grierson Y. Dorsal rotation flap for centralization in radial longitudinal deficiency. J Hand Surg 2007;32A:871–875.
     
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