Osteopetrosis with precocious manifestations

The history of a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of phenotypic and perhaps genotypic heterogeneity in metabolic diseases.

Osteopetrosis

Osteochondrodysplasia

Metabolic bone disease

Osteosclerosis

10.1136/adc.47.255.804

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Citations (18)

Autosomal dominant osteopetrosis and maxillomandibular osteomyelitis

American Journal of Otolaryngology (2005)

Luís Junquera Cristian Rodríguez-Recio Pedro M. Villarreal Luis Garcı́a-Consuegra

Osteopetrosis

Mandible (arthropod mouthpart)

Osteochondrodysplasia

10.1016/j.amjoto.2005.01.007

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Citations (23)

Congenital osseous dysplasias. Case reports of osteopetrosis and pycnodysostosis in Ibadan, Nigeria.

PubMed (1971)

Kolawole Tm

Osteopetrosis

Osteochondrodysplasia

Osteosclerosis

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Lethal osteopetrosis with multiple fractures in utero

American Journal of Medical Genetics (1986)

N. El Khazen D. Faverly Esther Vamos Nicole Van Regemorter J Flament-Durand

Abstract Severe osteopetrosis was diagnosed in utero in two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.

Osteopetrosis

Osteochondrodysplasia

10.1002/ajmg.1320230308

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Citations (36)

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

Skeletal Radiology (2017)

Dilek Sağlam Meltem Ceyhan Bilgici Tümay Bekçi Canan Albayrak Davut Albayrak

Osteopetrosis

Osteosclerosis

Osteochondrodysplasia

Encephalocele

Hyperostosis

10.1007/s00256-017-2595-8

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Citations (2)

Human Osteopetrosis and Other Sclerosing Disorders: Recent Genetic Developments

Calcified Tissue International (2001)

M.C. de Vernejoul O. Bénichou

Osteopetrosis

Osteosclerosis

Cathepsin K

Osteochondrodysplasia

10.1007/s002230020046

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Citations (56)

A CHILD WITH INCREASED BONE DENSITY: OSTEOPETROSIS

Marmara medical journal (2003)

Esra Önal Sönmez Aysu Türkmen Karaağaç Nihal Karatoprak Çağatay Nuhoğlu Serpil Yavrucu

Osteopetrosis is a rare disorder characterized by abnormal resorption and remodelling of bones owing to the defective osteoclastic activity. In some cases it may be asymptomatic and diagnosed accidentally. Here, we present such a case of osteopetrosis where we suspected the disease from the chest roentgenogram of the patient. Then the typical osteosclerotic changes in the skeletal survey of the patient confirmed our diagnosis of osteopetrosis. Key Words: Osteopetrosis, Osteoclasts, Bone resorption.

Osteopetrosis

Osteochondrodysplasia

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