Grand Rounds

Knocking Down the Diagnosis in Knock Knees

Anilkumar M Khamkar1, Georgeena Elsa Jose2, P D Pote2, Pradeep Suryawanshi1
1Department of Neonatology, Noble Hospital and Research Center, Pune, Maharashtra, India, 2Department of Pediatrics, Noble Hospital and Research Center, Pune, Maharashtra, India

Address for Correspondence: Dr. Georgeena Elsa Jose, Junior Resident -1, Department of Pediatrics, Noble Hospital and Research Center, 153, Magarpatta City Road, Pune, India - 411013. Email:

Keywords: Bardet- Biedl Syndrome, Knock Knees, Obesity, Polydactyly, Retinitis pigmentosa

Clinical Problem:
An 8-year-old girl, born of 2nd degree consanguineous marriage presented with bilateral lower limb deformity and not gaining height. Other problems included poor scholastic performance, diminished vision in both eyes especially at night and excessive weight gain from 2 years of age. She was operated for left sided complete cleft lip and palate at 3 years of age (Figure 1). She also had delayed developmental milestones, with commencement of walking and speech at 2 and 5 years of age, respectively. On examination, bilateral genu valgum (inter-malleolar distance was 20 cm) and post-axial hexadactyly and brachydactyly of all four limbs were seen (Figure 2). Her height was below 3rd percentile and her weight was at 25th percentile according to the Indian Academy of Pediatrics (IAP) charts, with a body mass index (BMI) above 97th percentile according to the World Health Organization (WHO) criteria. She had a waist to hip ratio of 0.89, fitting into central obesity. She also had Stage 2 hypertension [blood pressure (BP) 132/90 mm of Hg]. Ophthalmic examination revealed myopic astigmatism along with retinitis pigmentosa. Among the laboratory investigations (Table 1), she had severe Vitamin D deficiency, elevated alkaline phosphatase levels, deranged renal function tests and arterial blood gas analysis suggestive of metabolic acidosis. Bilateral lower limb scanogram (Figure 3) showed classical signs of rickets such as splaying, fraying and cupping at the metaphysis along with bilateral genu valgum. Ultrasonography of both kidneys showed raised cortical echogenicity. Cortico-medullary differentiation was lost. There was no hydronephrosis or calculus. These changes were suggestive of grade III chronic renal parenchymal disease. Her sexual development was consistent with her pre-pubertal stage.

Table 1. Laboratory investigations of the patient
Laboratory Test Patient’s value Reference range
Ionic Calcium 1.03 1.12 - 1.32 mmol/L
Serum Calcium 8.3 8.4 - 10.2 mg/dL
Serum Phosphorus 4.6 3.0 - 5.0 mg/dL
Vitamin D3 (25 hydroxy Vit D) 8.34 severe deficiency < 10 ng/mL
Serum Alkaline Phosphatase 2120 75 - 875 IU/L
Parathyroid Hormone 481.80 10 - 65 pg/mL
Thyroid stimulating hormone 4.72 0.6 - 4.84 µIU/mL
Free T4 1.15 0.9 - 1.67 ng/dL
Kidney Function Tests
Blood Urea 79 10 - 50 mg/dL
Serum Creatinine 2.31 0.5 - 1.2 mg/dL
Serum Uric Acid 4.4 2.0 - 7.0 mg/dL
Serum Sodium 141 135 - 145 mEq /L
Serum Potassium 4.0 3.5 - 5.5 mEq /L
Serum Chloride 113 98 - 110 mEq /L
Arterial Blood Gas Analysis
pH 7.19  
pCO2 24 35 - 45 mm of Hg
pO2 75 80 - 100 mm of Hg
Bicarbonate 9.2 22 - 26 mmol/L
Base Excess -19 between -3 and +3mmol/L
Lactate 1.8 0.5 - 1.6 mmol/L
Random blood Glucose 81 70 -110 mg/dL

Figure 1. Congenital left sided complete cleft lip and complete cleft palate
Knocking Down the Diagnosis in Knock Knees

Figure 2. Post axial polydactyly of both upper limbs and both lower limbs
Knocking Down the Diagnosis in Knock Knees

Figure 3. Marked truncal obesity and Bilateral lower limb scanogram showing bilateral genu valgum along with classical features of rickets.
Knocking Down the Diagnosis in Knock Knees

What is the diagnosis?

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