Autosomal recessive osteopetrosis (OP) is a rare, lethal disorder in which osteoclasts are absent or nonfunctional, resulting in a bone marrow cavity insufficient to support hematopoiesis.
The TCIRG1 gene, encoding the alpha-3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the osteopetrosis patients.
Paulose et al. (1988) described a case of osteopetrosis in a child who had agenesis of all paranasal sinuses as a silent feature of the disease.
Abdel-Al et al. (1994) diagnosed 19 Arab children (six boys and 13 girls) in ten sibships as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form.
In two Palestinian Muslim consanguineous families that lived in the same village, Dudin and Rambaud-Cousson (1993) found seven cases of lethal infantile osteopetrosis.
In a survey of 2000 different Palestinian Arab families Zlotogora (1997) found a high prevalence of recessive osteopetrosis.
Shalev et al. (2001) used linkage analysis for the prenatal diagnosis of osteopetrosis in Bedouin families at risk. Twelve cases were diagnosed, three fetuses were found to be affected, and one of the pregnancies was terminated.
Rysavy et al. (2007) described four relatives who presented with fractures and myelodysplatic anemia.
Al-Rasheed et al. (1998) observed, over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis in two hospitals in Riyadh.
In a 5-year prospective study for newborns at Al Ain Medical District, Al-Gazali et al. (2003) identified one case, born to a consanguineous parents, who had autosomal recessive osteopetrosis.