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Lethal osteopetrosis with multiple fractures in utero.

N el Khazen, D Faverly, E Vamos

    American Journal of Medical Genetics
    |March 1, 1986
    PubMed
    Summary

    Severe osteopetrosis was diagnosed in utero in two siblings. Reduced osteoclast numbers and early fetal involvement suggest a new form of autosomal recessive lethal osteopetrosis.

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    Area of Science:

    • Genetics and Developmental Biology
    • Pediatric Radiology
    • Pathology

    Background:

    • Osteopetrosis is a rare genetic disorder characterized by impaired osteoclast function, leading to bone sclerosis.
    • Diagnosis in utero is uncommon, particularly for severe forms requiring early intervention.

    Observation:

    • Two successive pregnancies in an intermarried couple revealed severe fetal osteopetrosis.
    • Ultrasound and radiological findings included hydrocephaly, skeletal hyperdensity by 18 weeks gestation, and fractures by 24 weeks.

    Findings:

    • Extensive pathological examination of brain and bone was performed.
    • A markedly reduced number of osteoclasts was observed in affected siblings.
    • Early and severe fetal involvement was noted.

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    Implications:

    • The findings suggest a potential new entity: autosomal recessive lethal osteopetrosis.
    • This discovery may impact genetic counseling and prenatal diagnosis for families with a history of osteopetrosis.
    • Further research into osteoclast development and function in this condition is warranted.