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OR12.1 | Congenital Malformation and Deformity Assessment — SDL Guide (Part 5)
Self-Assessment: Congenital Musculoskeletal Conditions
The following questions invite you to consolidate your learning from this module. Work through each scenario before reading the explanation. Self-assessment at this stage helps identify gaps before you encounter these conditions in clinical practice, where the examination findings are subtle and the time pressure is real. The questions are structured to reflect the kinds of clinical decision-making tested in MBBS final examinations and clinical postings in orthopaedics and paediatrics.
Scenario A: A 2-day-old female infant born after a breech presentation to a primigravid mother is brought to the newborn examination. On hip examination you feel a distinct clunk on abduction of the left hip. The right hip abducts freely to 80°. Outline: (1) the clinical sign you have elicited and what it indicates, (2) the investigation you would request and why X-ray is not appropriate at this age, and (3) the immediate management and expected outcome with appropriate treatment.
Scenario B: A 14-year-old girl is referred with a 3-year history of 'uneven shoulders'. She reached menarche 12 months ago. Standing X-ray shows a right thoracic curve with a Cobb angle of 38° and a Risser sign of 3. Her parents ask whether she needs surgery. Explain: (1) whether her curve is likely to progress further and why, (2) the treatment you would recommend, and (3) what follow-up interval and monitoring radiographs you would arrange.
Scenario C: Parents bring a 3-week-old male infant with bilateral foot deformities. Both feet appear turned inward, plantarflexed, with a high arch. You assign a Pirani score of 4.5 bilaterally. Describe: (1) the diagnosis and enumerate the four CAVE components, (2) the treatment you would initiate and the expected sequence of correction, and (3) what you would counsel the parents about the brace phase and the consequences of non-compliance.
Key recall points for examination:
- Cobb angle ≥10° = scoliosis; brace threshold = 25–45° in immature skeleton; surgery >45–50°
- DDH imaging: ultrasound <4–6 months (Graf alpha angle ≥60° = normal), X-ray after 6 months
- Pavlik harness: birth to 6 months, worn 23 h/day; Pavlik harness disease if hip remains dislocated after 3–4 weeks
- CTEV Ponseti sequence: Cavus → Adductus + Varus → Equinus; tenotomy in ~80% of cases
- Torticollis: head tilts TO affected SCM, chin rotates AWAY; physiotherapy >90% success if started before 3 months
- Myelomeningocele: Arnold-Chiari II + hydrocephalus in 70–90%; neurosurgical closure within 24–48 h of birth
CLINICAL PEARL
Five clinical red flags in congenital orthopaedic assessment that demand urgent specialist referral:
- A 'clunk' on hip examination in any neonate — not a 'click' (often benign ligamentous laxity) but a felt palpable clunk of reduction (Ortolani positive) or dislocation (Barlow positive). The distinction is clinical and tactile: clunks require urgent referral, clicks do not.
- Congenital scoliosis in any child — unlike idiopathic scoliosis, congenital scoliosis carries a 30% risk of associated genitourinary anomalies and a high risk of neurological complications from intraspinal anomalies. MRI of the full spine is mandatory before any treatment.
- Skin dimples above the sacral crease (intergluteal sulcus) combined with any neurological deficit — a dimple within 2.5 cm of the anus is typically benign, but dimples above the sacral crease, particularly with tufts of hair, a sinus tract, or any bladder/bowel dysfunction, suggest occult spinal dysraphism requiring MRI.
- Torticollis with restricted atlantoaxial rotation — before prescribing physiotherapy, exclude atlantoaxial instability (particularly in children with Down syndrome, Klippel-Feil, or Morquio syndrome) by dynamic cervical spine CT or MRI; vigorous physiotherapy in the context of atlantoaxial instability risks subluxation and cord injury.
- Clubfoot that does not show any improvement after 2–3 Ponseti casts — suggests a rigid neurogenic or syndromic aetiology (arthrogryposis, spina bifida-associated CTEV) where standard Ponseti is less effective and soft-tissue release may be required earlier.