Apart from the classical presentation, rare presentation of isolated genu valgus deformity and proximal muscle weakness may occur and such patient should be thoroughly evaluated. [academic.oup.com]

PATIENT CONCERNS: A 20-year-old OI woman presented with left thigh pain, gait disturbance, and bilateral genu valgus deformities. [ncbi.nlm.nih.gov]

Case contributed by Dr Mohammad Osama Hussein Yonso ◉ Diagnosis certain Diagnosis certain Presentation Female 35 years old complaining of pain in both knees for several years. On examination: genu valgum deformity. [radiopaedia.org]

J Pediatr Orthop B 21(4):352–355PubMedCrossRefGoogle Scholar O’Connor MJ, Collins RT (2012) Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. [link.springer.com]

• Anorexia

  The presentation can be nonspecific with vague signs and symptoms such as fatigue, anorexia, nausea, vomiting, constipation, irritability or with renal and skeletal manifestation and rarely pancreatitis and peptic ulcer [3]. [academic.oup.com]

• Polydipsia

  The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. [academic.oup.com]

• Recurrent Vomiting

  There was no history of recurrent fractures, polyuria, abdominal pains, recurrent vomiting or constipation. There was no past history of the use of anti-tubercular or anti-epileptic drugs, jaundice or renal problems. [academic.oup.com]

• Jaundice

  There was no past history of the use of anti-tubercular or anti-epileptic drugs, jaundice or renal problems. There was no family history of frequent fractures, renal calculi, hypertension or multiple endocrine neoplasia (MEN)-related disorders. [academic.oup.com]

• Ulcer

  The presentation can be nonspecific with vague signs and symptoms such as fatigue, anorexia, nausea, vomiting, constipation, irritability or with renal and skeletal manifestation and rarely pancreatitis and peptic ulcer [3]. [academic.oup.com]

• Thigh Pain

  PATIENT CONCERNS: A 20-year-old OI woman presented with left thigh pain, gait disturbance, and bilateral genu valgus deformities. [ncbi.nlm.nih.gov]

• Myopathy

  The clinical features included bone pain (86.67%), proximal myopathy (46.67%), bony deformities (53.33%), fractures (60%), palpable osteitis fibrosa cystica (33.3%), renal calculi (40%), palpable neck swelling (13.3%) and acute pancreatitis (6.67%). [academic.oup.com]

• Chest Deformity

  CASE REPORT A 15-year-old girl presented with progressive deformity of both lower limbs (bow legs deformity) for 4 years. She also developed proximal muscle weakness in lower limbs and chest deformity (pigeon chest deformity) for 2 years. [academic.oup.com]

• Muscle Weakness

  Apart from the classical presentation, rare presentation of isolated genu valgus deformity and proximal muscle weakness may occur and such patient should be thoroughly evaluated. [academic.oup.com]

• Proximal Muscle Weakness

  Apart from the classical presentation, rare presentation of isolated genu valgus deformity and proximal muscle weakness may occur and such patient should be thoroughly evaluated. [academic.oup.com]

• Neck Swelling

  The clinical features included bone pain (86.67%), proximal myopathy (46.67%), bony deformities (53.33%), fractures (60%), palpable osteitis fibrosa cystica (33.3%), renal calculi (40%), palpable neck swelling (13.3%) and acute pancreatitis (6.67%). [academic.oup.com]

• Suggestibility

  References and Suggested Reading DaSilva EO, Janovitz D, deAlbuquerque SC (1980) Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. [link.springer.com]

  None had a positive family history or features suggestive of MEN. [academic.oup.com]

• Polyuria

  There was no history of recurrent fractures, polyuria, abdominal pains, recurrent vomiting or constipation. There was no past history of the use of anti-tubercular or anti-epileptic drugs, jaundice or renal problems. [academic.oup.com]

• Headache

  The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. [academic.oup.com]

Evaluation Gait and rotational profile analysis are important aspects in the workup of angular deformities and help providers to identify the etiology of angular deformities, especially in the pediatric population. [ncbi.nlm.nih.gov]

• Nephrolithiasis

  The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. [academic.oup.com]

RATIONALE: The treatment of osteogenesis imperfecta (OI) requires a multidisciplinary approach to maximize function and reduce fracture incidence. [ncbi.nlm.nih.gov]

Operative arrestment of longitudinal growth of bones in the treatment of bones in the treatment of deformities. J Bone Joint Surg Am. 1933. 15:1-15. Salenius P, Vankka E. The development of the tibiofemoral angle in children. [emedicine.medscape.com]

November 2014 340 Downloads Abstract A 14-year-old female with chondroectodermal dysplasia (Ellis-van Creveld syndrome) underwent bilateral high tibial (proximal to the tibial tubercle) osteotomy and deformity correction via circular external fixation for treatment [link.springer.com]

Prognosis Physiologic genu valgum and Cozen's phenomenon almost always correct spontaneously. Pathologic genu valgum associated with metabolic bone diseases may improve when the underlying disorder is treated. [ncbi.nlm.nih.gov]

Prognosis Provided that the appropriate criteria (ie, sufficient growth remaining, careful analysis and preoperative planning, proper plate insertion, and periodic follow-up) are met, the results of guided growth are uniformly gratifying. [emedicine.medscape.com]

These are most often related to the underlying etiology. [ncbi.nlm.nih.gov]

In children (of any age) with pathologic valgus, when the mechanical axis deviates into or beyond the lateral compartment of the knee, regardless of the etiology, a number of clinical problems may ensue. [emedicine.medscape.com]

[…] patella, and rubbing of the knees together as the child ambulates.[2][3] Etiology Bilateral genu valgum Physiologic genu valgum Skeletal dysplasias Metabolic bone diseases Lysosomal storage diseases Unilateral genu valgum Post-traumatic Tumors Infection Epidemiology [ncbi.nlm.nih.gov]

Epidemiology Adolescent idiopathic genu valgum may be familial or may occur sporadically. The true incidence is unknown. [emedicine.medscape.com]

Pathophysiology With normal alignment, the physes and epiphyses are subjected to physiologic and intermittent compression and tension and thus are shielded from pathologic stress. [emedicine.medscape.com]

To prevent male nail dropping, a horizontal stop Kirschner pin was inserted close to the distal end of the female nail. [ncbi.nlm.nih.gov]

Therefore, it is in the best interest of the patient for the clinician to try to prevent such an outcome. [emedicine.medscape.com]