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Musculoskeletal Malformations in Children

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Classification by Aetiology

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Major Categories of Musculoskeletal Malformations

1. Limb Malformations

Upper Limb

• Polydactyly – supernumerary digits (pre-axial or post-axial)
• Syndactyly – fusion of digits (cutaneous or osseous)
• Brachydactyly – shortened digits
• Ectrodactyly (split hand) – absence of central digits
• Radial/ulnar clubhand – longitudinal deficiency of the radius or ulna
• Amelia – complete absence of a limb
• Phocomelia – intercalary limb deficiency (hand attached near shoulder); associated with thalidomide exposure
• Sprengel's deformity – congenitally elevated and hypoplastic scapula

Lower Limb

• Congenital Talipes Equinovarus (CTEV / Clubfoot) – foot held in equinus, varus, adduction, and cavus; incidence ~1–2 per 1,000 live births; treated by Ponseti method
• Congenital Vertical Talus (Rocker-bottom foot) – rigid flatfoot
• Metatarsus adductus – forefoot adduction, often self-correcting
• Proximal Focal Femoral Deficiency (PFFD) – partial absence/underdevelopment of the femur
• Tibial/fibular hemimelia – absence or hypoplasia of tibia or fibula

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2. Spine Malformations

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3. Hip Malformations

• Developmental Dysplasia of the Hip (DDH)
  • Spectrum from mild acetabular dysplasia to frank dislocation
  • Risk factors: female sex, breech presentation, positive family history, oligohydramnios
  • Screening: Barlow & Ortolani tests in neonates; ultrasound in infants <6 months; X-ray >4–6 months
  • Treatment: Pavlik harness (< 6 months), closed/open reduction, pelvic osteotomy

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4. Skeletal Dysplasias (Osteochondrodysplasias)

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5. Joint and Soft Tissue Malformations

• Congenital Dislocation of the Knee – hyperextension deformity at birth
• Arthrogryposis Multiplex Congenita – multiple joint contractures from reduced fetal movement; causes include neurological, muscular, or connective tissue disorders
• Larsen Syndrome – multiple joint dislocations + flat facies due to filamin B mutation
• Ehlers-Danlos Syndrome – joint hypermobility + skin/connective tissue fragility

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6. Complex/Severe Malformations

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Aetiology & Risk Factors

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Diagnostic Approach

1. Prenatal
   • Routine anomaly ultrasound at 18–20 weeks (detects major limb/spine defects)
   • Fetal MRI for complex cases
   • Amniocentesis/CVS for chromosomal/genetic diagnosis
2. Postnatal
   • Thorough physical exam at birth
   • Radiographs (skeletal survey for dysplasias)
   • Ultrasound (DDH screening)
   • MRI (spinal cord involvement, soft tissues)
   • Genetic karyotyping / molecular panels

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Management Principles

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Prognosis

• Many minor malformations (e.g., polydactyly, syndactyly, positional talipes) respond well to early treatment with excellent functional outcomes.
• DDH diagnosed and treated before 6 months has near-normal outcomes; delayed treatment risks avascular necrosis and early arthritis.
• Skeletal dysplasias are lifelong conditions but compatible with a productive life in most forms (except lethal dysplasias).
• Complex multi-system malformations (LBWC, arthrogryposis) require intensive multidisciplinary care.

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Surgical Procedures in Pediatric Musculoskeletal Malformations

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Foot & Ankle

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Hip

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Spine

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Limb Deficiencies & Digits

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Knee

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Scapula & Shoulder

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Neck

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Skeletal Dysplasias

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Key Principle

The timing of surgery is critical. Most conditions are best corrected in early childhood when bone is malleable, remodelling capacity is high, and neurological plasticity is greatest. Delayed intervention (e.g., DDH diagnosed after age 2) leads to more complex surgery and worse outcomes.

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Hernias of the Anterior Abdominal Wall

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Definition

• Sac – peritoneal covering
• Neck – constriction at the defect
• Body/fundus – the sac proper
• Contents – omentum, bowel (small/large), bladder, ovary, etc.

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Ventral (Anterior Abdominal Wall) Hernias

European Hernia Society (EHS) Classification (2009)

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Types of Anterior Abdominal Wall Hernias

1. Umbilical Hernia

• In children: Due to failure of the umbilical ring to close after birth; common in premature and Afro-Caribbean infants
• Most close spontaneously by age 3–4 years
• Surgery indicated if persists beyond age 4, symptomatic, or ring > 1.5 cm
• In adults: Acquired; associated with obesity, ascites, multiple pregnancies, raised intra-abdominal pressure
• Risk of strangulation is higher in adults → early repair recommended
• Repair: Mayo's "vest-over-pants" technique (overlap repair) or mesh repair

2. Paraumbilical Hernia

• Protrudes just above or below the umbilicus through the linea alba
• Almost exclusively in adults; more common in obese, multiparous women
• Higher risk of strangulation than true umbilical hernia
• Contents: omentum, transverse colon, small bowel
• Repair: Mayo's repair or mesh (mesh preferred for defects > 3 cm)

3. Epigastric Hernia

• Through defects in the linea alba between xiphoid and umbilicus
• Often contains extraperitoneal fat (not a true peritoneal sac initially)
• Small but can be painful; may be multiple
• More common in males
• Repair: Simple fascial closure; mesh for larger defects

4. Incisional Hernia

• Occurs through a previous surgical scar (any site)
• Incidence: 10–15% after midline laparotomy
• Risk factors: wound infection, obesity, malnutrition, steroid use, poor surgical technique
• May contain large amounts of bowel ("loss of domain")
• Repair: Open (Rives-Stoppa retromuscular mesh) or laparoscopic (IPOM – Intraperitoneal Onlay Mesh)

5. Spigelian Hernia

• Through the Spigelian fascia (lateral edge of rectus abdominis, at the level of the arcuate line)
• Interparietal – lies between layers of abdominal wall; therefore often not visible
• Difficult to diagnose clinically → CT/ultrasound essential
• High risk of strangulation
• Repair: Open or laparoscopic mesh repair

6. Lumbar Hernia

• Through the superior lumbar triangle (Grynfeltt) or inferior lumbar triangle (Petit)
• Rare; may be congenital or acquired (post-trauma, post-surgery)
• Repair: Mesh repair (open or laparoscopic)

7. Parastomal Hernia

• Adjacent to a colostomy or ileostomy site
• Very common (up to 50% of stomas)
• Management: relocation of stoma or mesh repair (Sugarbaker or keyhole technique)

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Summary Table — Anterior Abdominal Wall Hernias

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Inguinal Hernias

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Definition

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Anatomy of the Inguinal Canal

• Medial border: Lateral edge of rectus abdominis
• Lateral border: Inferior epigastric vessels
• Inferior border: Inguinal ligament

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Types of Inguinal Hernia

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Aetiology & Risk Factors

• Congenital: Patent processus vaginalis (indirect)
• Raised intra-abdominal pressure: Chronic cough (COPD), constipation, BPH, ascites, heavy lifting
• Weakness of abdominal wall: Age, obesity, malnutrition, previous surgery
• Male sex: Inguinal canal wider, processus vaginalis present longer
• Prematurity: Incomplete obliteration of processus vaginalis

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Clinical Features

• Reducible hernia: Swelling in groin/scrotum; appears on standing/straining; reduces on lying down
• Irreducible hernia: Cannot be pushed back — may be due to omental adhesions or loop of bowel
• Obstructed hernia: Bowel within sac is obstructed but NOT yet ischemic
• Strangulated hernia: Blood supply cut off → ischemia, gangrene → surgical emergency
  • Signs: Severe pain, tender, tense, irreducible; systemic sepsis in late presentation

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Diagnosis

• Primarily clinical — history + physical examination
• Patient examined standing and asked to cough
• Distinguish from: femoral hernia, lymphadenopathy, hydrocele, varicocele, undescended testis, lipoma of cord

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Management

Conservative

• Watchful waiting: Acceptable for asymptomatic or minimally symptomatic hernias in fit patients
• Truss: Only palliative; not curative; used in unfit patients

Surgical (Definitive Treatment)

Open Repairs

Laparoscopic / Minimally Invasive Repairs

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Complications of Inguinal Hernia Surgery

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Special Situations

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Key Distinctions to Remember

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Bottom line (Bailey & Love, p. 1086): Inguinal hernias are classified as indirect (lateral/oblique) or direct (medial), may be congenital or acquired, are diagnosed clinically (radiologically in special cases), and are repaired by open or minimally invasive (laparoscopic/robotic) surgery.

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Symptoms of Hernias

General Symptoms (All Hernias)

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Symptoms by Hernia State

As Bailey & Love states: "If pressure rises sufficiently, arterial blood cannot enter the hernia and the contents become ischaemic and may infarct — the hernia is then said to have strangulated."

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Site-Specific Symptoms

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Clinical Image — Bilateral Inguinal Hernia (Pre and Post-op)

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Surgical Treatments — Method Names & Surgery Names

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A. Inguinal Hernia Surgeries

Open (Non-Laparoscopic) Methods

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Laparoscopic / Minimally Invasive Methods

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B. Anterior Abdominal Wall Hernia Surgeries

Umbilical & Paraumbilical

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Incisional Hernia

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Epigastric Hernia

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Spigelian Hernia

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Summary Table — Surgical Methods at a Glance

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Key Principle: The choice of surgery depends on hernia type, size, patient fitness, recurrence risk, and surgeon experience. Tension-free mesh repair (open Lichtenstein or laparoscopic TEP/TAPP) is the modern standard for inguinal hernias, while Rives-Stoppa / retromuscular sublay is preferred for incisional hernias.

Hernias in Males vs. Females — Key Differences

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1. Incidence

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2. Anatomical Differences — Inguinal Canal

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3. Intraoperative Anatomy — Female Inguinal Hernia (TAPP View)

• (A) Medial umbilical ligament
• (B) Deep inguinal ring — site of herniation
• (C) Round ligament of uterus entering the inguinal canal
• (D) Inferior epigastric vessels (medial boundary of indirect hernia)

In females, the round ligament replaces the spermatic cord. During repair, it may be divided or preserved — division does not cause significant clinical problems.

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4. Type of Hernia Predominance

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5. Hernia Contents — Sex-Specific Differences

Ovarian herniation is particularly important in female infants and children — an irreducible lump in the groin may represent a herniated ovary and requires prompt surgical attention to avoid torsion and infarction.

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6. Presentation Differences

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7. Surgical Considerations

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8. Summary Comparison Table

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Clinical Pearl: In females, femoral hernia must always be excluded when a groin lump is found — it is proportionally more common and has a higher strangulation risk than inguinal hernia due to the rigid femoral ring. In female infants, a groin lump is a herniated ovary until proven otherwise.