Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.

Hauck, Jeffrey; Gerard, Amanda; Crowe, James E; Martinez, Caridad A; Machol, Keren

Hauck, Jeffrey; Gerard, Amanda; Crowe, James E; Martinez, Caridad A; Machol, Keren.

Affiliation

Hauck J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Crowe JE; Department of Genetics, Texas Children's Hospital, Houston, TX.
Martinez CA; Department of Radiology, Texas Children's Hospital, Houston, TX.
Machol K; Department of Hematology-Oncology, Texas Children's Hospital, Houston, TX.

J Pediatr Clin Pract ; 11: 200100, 2024 Mar.

Article in En | MEDLINE | ID: mdl-38827482

ABSTRACT

ABSTRACT

We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.

Key words

Osteopetrosis; Transient osteosclerosis; autosomal recessive osteopetrosis; bone mineral density disorder; heritable bone diseases; infantile osteopetrosis; radiological findings; whole genome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: J Pediatr Clin Pract Year: 2024 Document type: Article Country of publication:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: J Pediatr Clin Pract Year: 2024 Document type: Article Country of publication: