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 ::  Introduction
 ::  Case report
 ::  Acknowledgment
 ::  References
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Year : 1996  |  Volume : 42  |  Issue : 4  |  Page : 123-5

Three sibs with mild variety of osteopetrosis.

Department of Paediatrics, K E M Hospital & Seth G S Medical College, Parel, Mumbai.

Correspondence Address:
A M Shah
Department of Paediatrics, K E M Hospital & Seth G S Medical College, Parel, Mumbai.

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Source of Support: None, Conflict of Interest: None

PMID: 0009715315

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 :: Abstract 

We report three sibs with mild autosomal recessive variety of osteopetrosis. The prominent clinical features were short stature, malocclusion of teeth, hepatosplenomegaly and a typical facial appearance. The only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.

Keywords: Case Report, Child, Child, Preschool, Female, Genes, Recessive, genetics,Genetic Diseases, Inborn, genetics,pathology,radiography,Human, Infant, Osteopetrosis, genetics,pathology,radiography,Pedigree,

How to cite this article:
Shah A M, Boby K F, Karande S C, Lahiri K R, Jain M K. Three sibs with mild variety of osteopetrosis. J Postgrad Med 1996;42:123

How to cite this URL:
Shah A M, Boby K F, Karande S C, Lahiri K R, Jain M K. Three sibs with mild variety of osteopetrosis. J Postgrad Med [serial online] 1996 [cited 2023 Sep 24];42:123. Available from:

  ::   Introduction Top

The term osteopetrosis refers to several inherited disorders in which increased bone density is a characteristic finding[1]. We are reporting three sibs with mild autosomal recessive variety of osteopetrosis. To our knowledge, there are only 20 cases reported of this variety in literature [2].

  ::   Case report Top

A 5-year-old girl (case A) presented with complaints of progressively increasing swelling in the left upper abdomen noticed since the last two months and not gaining height adequately. There was no history of any blood disorder in the family, hematemesis, jaundice, chronic fever, loss of weight or any other swelling noticed elsewhere.

The child's height was 83 cm (< 5th % le), with normal bone age, height age of 2 years and normal upper segment to lower segment ratio and arm span. Her weight was 10.7 kg (< 5th % le) and head circumference 42 cm (< 5th % le). There was mild pallor, malocclusion of teeth, typical facial appearance and radiographic evidence of increased bone density [Figure - 1]. There was no icterus, lymphadenopathy, bony deformity or clinical evidence of fracture or osteomyelitis. Liver span was 10 cm and spleen was palpable 12 cm below the left costal margin. Vision and fundi were normal. There was no hearing deficit. Neurological examination was normal. Her motor and mental age was 3 years. Parents' heights were 140 em (mother) and 150 cms (father). Neither had splenomegaly, hearing deficit, history of repeated fractures bony deformity or evidence of increased bone density. Two other sibs (Case B & C) were screened and showed radiographic evidence otoslceropetrosis [Table - 1] and typical facial appearance.

Till the 1930's only two forms of osteopetrosis were recognised: a benign form (autosomal dominant inheritance) and a severe malignant form (autosomal recessive inheritance)[3]. Many individuals with the benign form of osteopetrosis were asymptomatic adults with skeletal changes detected accidentally on radiographic examination. Some of these patients suffered from multiple fractures osteomyelitis poor dentition cranial nerve palsies due to progressive narrowing of foramina and poor dentition but the more serious hematologic manifestations of the disease were usually absent[4].

Patients with pedigrees indicating autosomal recessive inheritance were more severely affected[4]. However few cases similar to the ones described here and having a benign course with autosomal recessive inheritance have been reported[5].

There are three patterns of clinical disease in the recessive group[5]. The first type is associated with renal tubular acidosis cerebral calcifications extramedullary hematopoiesis, hepatosplenomegaly and pancytopenia. A deficiency of carbonic anhydrase II has recently been demonstrated in this disorder[6].

A second clinical presentation of recessive osteopetrosis is the widely recognised severe form without renal abnormalities. These patients have bone marrow compromise as a result of bone overgrowth in the marrow space. They die in infancy or childhood of anaemia with congestive heart failure or sepsis. The increased susceptibility to severe infection is presumably related to pancytopenia secondarily to marrow space obliteration[5].

The third type of recessive osteopetrosis is a milder form with variable orthopedic and dental symptoms originating in childhood. Patients with this form have radiographic evidence of disease, short stature, macrocephaly, increased US/LS ratio decreased arm span, mandibular prognathism nerve compression and a tendency for developing fractures and osteomyelitis. Patients often have been asymptomatic in childhood but radiographic changes are present. Eleven families previously reported with 18 affected members fall into this group. In many of these cases, there was parental consanguinity[5].

The three sibs whom we report belong to the third type (mild recessive osteopetrosis). The prominent clinical features are short stature, malocclusion of teeth, mild to moderate anaemia with evidence of extramedullary hematopoiesis and a typical facial appearance.

There is no definite treatment. Only symptomatic treatment is given. Osteomyelitis is to be treated vigorously. Mandibular actinomycosis may be fatal but it has been treated successfully with long-term penicillin augmented with hyperbaric oxygen. Dental abnormality fractures and cranial nerve compression (II, VII, VIII nerves) may occur and require specific treatment. Prognosis in the present cases is good with a normal life span. There is no method for detection of carrier state although genetic counselling is indicated. Definite antenatal diagnosis remains uncertain[2].

  ::   Acknowledgment Top

We thank our Dean Dr (Mrs) P M Pai for giving us permission to publish this case report.

 :: References Top

1. Sillence DO. Abnormalities of Density or Modelling of the Skeleton and Collagenous Tissue. In: Behrman RE, Kliegman RM, Nelson WE, Vaughan VC, editors. Nelson Textbook of Paediatrics. 14th ed. Philadelphia: WB Saunders Co; 1987, pp 1741-1745  Back to cited text no. 1    
2.Buyse ML. Birth Defects Encyclopedia 1st Ed. Massachusetts: Blackwell Scientific Publication; 1980, pp 1333  Back to cited text no. 2    
3.McBeak ON. Osteopetrosis. Report of eight cases occurring in three generations of one family. Am J Roentgenol 1936; 36:816-829  Back to cited text no. 3    
4.Nussey AM. Osteopetrosis. Arch Dis Child 1983; 13:161-72.  Back to cited text no. 4    
5.Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis Am J Med Genet 1984; 17:451-464.  Back to cited text no. 5    
6.Sly WS, Hewett-Emmett D, Whyte MP, Yu-Y-SIL, Tashian RE. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification Proc Natl Acad Sci 1983; 80:2752-2756.   Back to cited text no. 6    


[Figure - 1]


[Table - 1]


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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
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