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CASE REPORT Table of Contents   
Year : 2002  |  Volume : 36  |  Issue : 1  |  Page : 55-56
Hereditary osteo-onycho-dysplasia A case report


Department Of Orthopaedics, KG Medical College, Lucknow, India

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How to cite this article:
Kumar V, Jain U K, Mehta S S. Hereditary osteo-onycho-dysplasia A case report. Indian J Orthop 2002;36:55-6

How to cite this URL:
Kumar V, Jain U K, Mehta S S. Hereditary osteo-onycho-dysplasia A case report. Indian J Orthop [serial online] 2002 [cited 2019 Oct 22];36:55-6. Available from: http://www.ijoonline.com/text.asp?2002/36/1/55/35932

   Introduction Top


Hereditary-osteo-onycho-dysostosis (formerly called nail patella syndrome) is a connective tissue disease. It is an autosomal dominant disease characterized by dystrophy of the nails, deformities of knees, elbows, renal dysplasia and pathognomonic iliac horns, which develop on posterolateral aspect of the ilium. A case of osteo-oncho dysplasia with bilateral congenital dislocation of hip and absence of the iliac horns is being reported.


   Case Report Top


A 14-year male was admitted for the treatment of congenital talipes equinovarus of right foot. On clinical examination, patient had short stature, increased lumbar lordosis, bilateral congenital dislocation of the hip, bilateral quadriceps contracture and bilateral radiohumeral dislocation with flexion deformity of elbows [Figure 1]. Both distal phalanges of the thumb were short with hypotrophic nail [Figure 2].

In the right knee quadricepsplasty had been done at the age of 2 years with resultant range of movement 5 0 - 90 0 while on the left side there was contracture with hypoplastic patella [Figure 3] with the range of movement 0 0 - 20 0 . In the left foot, posteromedial soft tissue release for talipes equinovarus was done at 3 years of the age.

Roentgenography confirmed the findings of the clinical examination. Renal profile showed asymptomatic proteinuria (< 800 mg) with recurrent urinary tract infection.

Probing of paternal ancestry was normal [Figure 4]. In descending order (1) elder most sister had bilateral congenital talipes equinovarus deformity treated with corrective manipulation and plaster; (2) mother of the patient had proteinuria with recurrent urinary tract infection (1.6 g% per day, E. coli); (3) Maternal aunt has flexion deformity of the elbows and genu recurvatum with quadriceps contracture; (4) youngest maternal uncle expired at 8 years of age due to (?) nephrotic syndrome; (5) Maternal grand mother was having short interphalageal joints, and (6) her sister was having flexion deformity of the bilateral elbow.


   Discussion Top


Palacios [1] noted skeletal and nail dysplasia in the form of absence of thumbnail and absence of the patella attributed those to hereditary disorder. Clinical tetrad dysplasia of thumbnail, elbow, patellae and pelvic horns, are main signs. [2],[3],[4] Bilateral posterior dislocation of radial head, exostosis of inner table of the frontal bone, thickening of axillary border of the scapulae and minor deformities of the wrist are other findings reported. [5] Few sporadic cases with some less frequent finding such as hypoplasia of ilium, intrapelvic protrusion of acetabulum, protrusio acetabuli, coax valga, weakness of quadriceps femoris, flattening of the humeral heads and hypoplastic or deformed styloid processes of the ulna with or without dislocation are also documented. Scoliosis and partial ankylosis of distal interphalyngeal joints of the fingers was seen in 500 cases. [2]

Maini [6] found flexion contracture of distal interphalangeal joints in 7 cases. Nephropathy ranging from asymptomatic proteinuria, recurrent urinary tract infection due to renal dysplasia, chronic glomerulonephritis, polycystic kidney to hereditary nephropathy associated with the osteo-onycho­dysplasia have been reported. [7],[8]

Hereditary osteo-onycho-dysplasia has autosomal dominant inheritance with complete penetrance. Both sexes are equally affected, no generation can skip. [5],[6],[7] The gene on the chromosome transporting ABO blood group locus also carry gene of osteoonychodysplasia. Incidence of affection as in previously reported cases are nails 98%, elbow 90%, knee 92% (agenesis of patella 11%, hypoplastic patellae 79%, patellar dislocation 29% and iliac horns 81%). Palacios [1] has proposed even more descriptive term Herediatary osteo-onycho-arthro-dysplasia.

Although most of the series have reported the presence of iliac horn (81%) but none of the series showed the bilateral posterior dislocation of the hip as an additional feature. Iliac horns develop on posterolateral surface of the ilium and in the process of the formation of false acetabulum at the posterolateral surface of ilium, it would be unlikely for the iliac horn to develop.

 
   References Top

1.Palacios E. Hereditary osteo-onycho-dysplasia. The Nail Patella syndrome. Radiol 1967; 101: 842-850  Back to cited text no. 1    
2.Lucas GL, Optiz JM. Nail patella syndrome. J Pediatr 1966; 68: 273-288  Back to cited text no. 2    
3.Firth ACD. Hereditary absence of patellae and deformity of nails. Brit J Child Dis 1912; 9: 305  Back to cited text no. 3    
4.Turner JW. Hereditary arthroplasia associated with hereditary dystrophy of nails. J Am Med Assoc 1933; 100: 882-884.  Back to cited text no. 4    
5.Mino RA, Mino VH, Livingstone RG. Osseous dysplasia and dystrophy of nails. Review of Literature and report of case. Am J Roentgenol Rad Therapy 1948; 60: 633-641  Back to cited text no. 5    
6.Maini PS, Mittal RL. Hereditary onycho-osteo-arthro-dysplasia. J Bone Joint Surg [Am] 1966; 48-A: 924-930.  Back to cited text no. 6    
7.Lawler SD, Renwick JH, Mosdech J, Wildervanck LS. Linkage test involving P blood group locus and further data on ABO: Nail Patella Linkage. Ann Hum Genet 1958; 22: 342-355  Back to cited text no. 7    
8.Leahy MS. Hereditary nephropathy of osteo-onycho-dysplasia. Am J Dis Child 1966; 112: 237­241  Back to cited text no. 8    

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Correspondence Address:
V Kumar
24, Durga Bhawan, Ghas Mandi, Thakurganj, Lucknow
India
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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    Introduction
    Case Report
    Discussion
    References
    Article Figures
 

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