Osteogenesis Imperfecta in neonatal period in Cameroon: A case report

Betoko, Ritha Carole Mbono; Sap, Suzanne Ngo Um; Yamben, Marie-Ange Ngo; Nengom, Jocelyn Tony; Ndombo, Paul Koki

doi:10.1002/ccr3.3572

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…Cases of vaginal delivery of a child with OI type III were described by, among others, Shikhrakar et al (23) . Prenatal diagnosis and genetic counselling should be improved especially in less developed countries since caring for children with OI in low-income countries poses particular challenge (27) . With the development of molecular genetics, the authors have started to emphasize the need to investigate entire families for inheritance and phenotypic variability of OI (4) .…”

Section: Discussionmentioning

confidence: 99%

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

Jakubowska-Pietkiewicz,

Górczewska,

Nowicki

et al. 2023

Pediatr Med Rodz

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Introduction and objective: Osteogenesis imperfecta is a heritable bone dysplasia resulting in reduced bone mineral density. Fractures of long bones, which are the dominant symptom of osteogenesis imperfecta, can be diagnosed already in foetal life. Multiple fractures are associated with severe pain, which may cause deterioration of the newborn’s general condition, respiratory and circulatory disorders, and reduced general motor activity. The aim of the study was to summarise the experience resulting from many years of care and treatment of neonates with osteogenesis imperfecta types II and III. Materials and methods: The study included 53 newborns with osteogenesis imperfecta hospitalised at the Department of Paediatrics, Newborn Pathology and Bone Metabolic Diseases in the years 2001–2021. All children underwent a babygram and an assessment of their health status, including calcium and phosphorus metabolism parameters. Results: In 67.3% of cases, the mother was informed before delivery that she would give birth to a sick child. The general condition of the newborns was moderately severe to severe in 43.4%. Physical examination revealed abnormal body proportions related to previous fractures in 98.1% of patients, including long bones of limbs. More than 10 fresh bone fractures were diagnosed in 34% of children. Conclusions: Prenatal diagnosis of osteogenesis imperfecta indicates its severe course (multiple fractures) in the neonatal period. Therefore, it requires care in a specialised centre that will provide safe, symptomatic pharmacological treatment (bisphosphonates) to reduce both pain and the risk of further bone fractures.

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Section: Discussionmentioning

confidence: 99%

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

Jakubowska-Pietkiewicz,

Górczewska,

Nowicki

et al. 2023

Pediatr Med Rodz

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“…Out of the reviewed case reports, OI was confirmed in all but one. Betoko et al [21] pointed out that expensive genetic tests are still not available in low-income countries, leading to diagnoses that are based only on the clinical findings.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review

Vankevičienė,

Matulevičienė,

Mazgelytė

et al. 2023

Genes

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Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient’s outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I–IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient’s condition remains severe with bisphosphonate therapy.

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Osteogenesis Imperfecta in neonatal period in Cameroon: A case report

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 2 publications

References 11 publications

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

Assessment of the health status and pharmacological treatment of neonates with osteogenesis imperfecta – 20-year single-centre observations

A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review

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