Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features and is characterized by an increase in bone density and reduction of marrow spaces that result from a defect in the function of osteoclasts and, consequently, a decrease in bone turnover. This disease is generally divided into three types: severe infantile malignant autosomal recessive, intermediate mild autosomal recessive, and benign autosomal dominant. The prognosis of the first two types is very poor and is characterized by an early onset, usually within the first decade of life, and early death. The benign-type is characterized by a later onset and a longer life span. Ten percent of osteopetrosis cases develop osteomyelitis that usually involves the mandible. The osteomyelitis is generally caused by tooth extraction or pulpal necrosis. The leading cause of the increased rate of infection is thought to be a lack of adequate bone vasculature. Treatment of osteomyelitis secondary to osteopetrosis is controversial. Treatment regimens include high-dose systemic antibiotics coupled with thorough debridement of necrotic bone and primary closure of soft tissues, if possible. Hyperbaric oxygen has been used for the treatment of chronic osteomyelitis.

Osteomyelitis of the mandible in a patient with osteopetrosis. Case report and review of the literature.

Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the likely responsible gene identified as DMRT1. Similar to patients with other molecular causes of 46,XY gonadal dysgenesis, patients with partial del 9p have an increased risk of gonadoblastoma. We present two patients with 46,XY gonadal dysgenesis due to partial 9p monosomy. Both patients were also diagnosed with gonadoblastoma following gonadectomy at an early age. Chromosomal microarray analyses refined the cytogenetic abnormalities and allowed potential genotype-phenotype relationships to be determined. We also review the literature as it pertains to partial 9p monosomy, genital abnormalities and gonadoblastoma and note that a large percentage of affected patients present with two copy number variations. We propose that a two-hit mechanism may be involved in the incomplete penetrance and variable expressivity of partial 9p monosomy and an abnormal genital phenotype. The significant percentage of gonadoblastoma in patients with 46,XY complete gonadal dysgenesis due to partial 9p monosomy also continues to support the necessity of gonadectomy in this patient population.

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9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Pediatric primary osteomyelitis of the sternum may have a non-specific onset and be diagnosed late. We analyzed all accessible published cases (n = 73) and 1 new case in order to describe presenting signs and symptoms, laboratory findings, diagnostic imaging features, causative pathogens, treatments

Primary osteomyelitis of the sternum in the pediatric age group: report of a new case and comprehensive analysis of seventy-four cases.

When bone becomes marble: Head and neck manifestations of osteopetrosis

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.

Three sibs with mild variety of osteopetrosis.

From the Department of Pediatrics, K.E.M. Hospital and Seth G.S. Medical College, Voxel, Bombay 400 012, Maharashtra. Reprint requests: Dr. Keya R. Lahiri, Associate Professor, Department of Pediatrics, K.E.M. Hospital and Seth G.S. Medical College, Parel, Bombay 400 012, Maharashtra. Received for publication: March 12, 1994; Accepted: October 12,1994 contact with tuberculosis, weight loss, lymphadenopathy, similar swelling any where else or skin rash. There was a his tory of sexual abuse but the patient did not tell the time of insult or the person involved. The mother had not registered in any ante-natal clinic and did not have history of abortions or still births. She had no evidence of any sexually trans mitted disease at the time of pre sentation. The child was of good birthweight without any significant illness in the past.

A. M. Shah

Papers

Three sibs with mild variety of osteopetrosis.

Late onset congenital syphilis.