Multiple Fractures in Neonates and Osteogenesis Imperfecta

John, BM; Sk, Patnaik; Thergaonkar, Ranjeet

doi:10.1016/s0377-1237(06)80165-6

Cited by 8 publications

(9 citation statements)

References 8 publications

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“…OI is characterized by the triad of fragile bones, blue sclera, and deafness [ 5 ]. Owing to the widespread role of type I collagen, the clinical manifestations of OI vary from mild phenotype which is diagnosed later in life to lethal form, which may be diagnosed perinatally [ 1 – 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Osteogenesis imperfecta (OI) is classified into four types, where type I is the least severe, type II is the lethal type perinatally, type III is the most severe one among survivors, and type IV is of intermediate severity [ 1 , 4 ]. Type III OI presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities [ 5 ]. Even though patients with type III OI are thought to have numerous fractures in the fetal and perinatal stages, the findings are often missed in antenatal ultrasonography [ 2 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…Type III OI presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities [ 5 ]. Even though patients with type III OI are thought to have numerous fractures in the fetal and perinatal stages, the findings are often missed in antenatal ultrasonography [ 2 , 5 ]. Here, we describe a rare case of osteogenesis imperfecta type III with PDA with radiographic findings of diffuse osteopenic changes, multiple fractures, and bone deformities in a newborn.…”

Section: Introductionmentioning

confidence: 99%

“…Here, we describe a rare case of osteogenesis imperfecta type III with PDA with radiographic findings of diffuse osteopenic changes, multiple fractures, and bone deformities in a newborn. In addition to the rarity of type III OI, only approximately 1 in 20000 cases of OI are detected during infancy [ 5 ]. This case is reported for the diagnosis of sporadic type III OI in a 1-day-old newborn.…”

Section: Introductionmentioning

confidence: 99%

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An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life

Shikhrakar

Mandal²,

Sharma

et al. 2022

Case Reports in Pediatrics

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Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. It is estimated that only 1 in 20,000 cases of OI are detected during infancy, and the diagnosis carries a poor prognosis. This case is reported for the rarity of sporadic OI diagnosis in neonates. We present a case of a 1-day-old neonate following a normal vaginal delivery referred to our center in the view of low birth weight and multiple bony deformities. Physical examination revealed an ill-looking child with poor suckling, gross bony deformities in upper and lower limbs, and blue sclera. X-ray showed thin gracile bones with multiple bone fractures. Echocardiography revealed a 4 mm patent ductus arteriosus. The patient was diagnosed with type III OI with patent ductus arteriosus. Though OI is rare in neonates and infants, it should be considered in the differentials in a newborn presenting with multiple bony deformities regardless of family history, history of trauma, or physical abuse. OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life

Shikhrakar

Mandal²,

Sharma

et al. 2022

Case Reports in Pediatrics

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“…In some cases, affected infants may develop pulmonary insufficiency and respiratory problems. 1,6,7 They may have a slight bluish discoloration of the sclera but most often fades during the first year of life. Hearing impairment and dentinogenesis imperfect may also be present.…”

Section: Discussionmentioning

confidence: 99%

Osteogenesis imperfecta: a case report

Kambiakdik

Sohi

Nyorak

et al. 2019

Int J Contemp Pediatr

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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

Senturk,

Gulec,

Sarac Sivrikoz

et al. 2024

Fetal Diagn Ther

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Introduction: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected. Results: Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intra-family expression of CREBL3 and P3H1-related OI. Conclusion: Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetic and postmortem evaluation.

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Multiple Fractures in Neonates and Osteogenesis Imperfecta

Cited by 8 publications

References 8 publications

An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life

An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life

Osteogenesis imperfecta: a case report

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

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