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Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.

Persiani P, Ranaldi FM, Martini L, Zambrano A, Celli M, D'Eufemia P, Villani C - Medicine (Baltimore) (2016)

Bottom Line: Now, he is 2 years old and has started to walk properly without any orthesis.In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI.In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.

View Article: PubMed Central - PubMed

Affiliation: aUniversitary Department of Anatomic, Histologic, Forensic and Locomotor Apparatus Sciences-Section of Locomotor Apparatus Sciences, Sapienza University of Rome bCenter for Congenital Osteodystrophies, Pediatric Department-Policlinico Umberto I, Italy.

ABSTRACT

Background: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures. This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III. Patient's mother also suffers from OI type IV.

Methods: The treatment was started by placing femoro-podalic corrective casts, according to the Ponseti method, but some unexpected problems occurred during this treatment. When the patient was 3 months of age, we decided to correct the clubfoot before the time limit planned, performing a bilateral posteromedial surgical release.

Results: Three weeks after surgery the casts were removed and replaced with bilateral Spica cast-like braces. On the 6th postoperative week, the patient began wearing Bebax corrective shoes, after 1 year ambidextrous orthopedic shoes. Now, he is 2 years old and has started to walk properly without any orthesis.

Conclusion: In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI. The final surgical treatment to correct the clubfoot can be done earlier, if necessary. In our opinion, this uncommon association between OI and clubfoot is non-syndromic. This means that the two congenital diseases are not necessarily included in a singular uncommon genetic syndrome, but the clubfoot was caused by multifactorial causes, especially by both the mother's bisphosphonate drug therapy and the amniocentesis performed during her pregnancy to drain polyhydramnios. In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.

No MeSH data available.


Related in: MedlinePlus

Clinical control 2 years after surgery: the patient walks properly, without pain, and with a minimum residual adduction of the forefoot.
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Figure 7: Clinical control 2 years after surgery: the patient walks properly, without pain, and with a minimum residual adduction of the forefoot.

Mentions: The patient has now turned 2 years of age, and ambulates properly without pain and with a minimum residual adduction of the forefoot, but without any stiffness (Fig. 7). He is continuing a medical therapy with neridronate (therapeutic dose: 2 mg/kg i.v. every 3 months) at our center, according to the OI protocol of treatment. The patient is followed and controlled periodically in our Center for Reference and Treatment of Congenital Osteodystrophies, in the Pediatrics Department of the Policlinico Umberto I Hospital.


Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.

Persiani P, Ranaldi FM, Martini L, Zambrano A, Celli M, D'Eufemia P, Villani C - Medicine (Baltimore) (2016)

Clinical control 2 years after surgery: the patient walks properly, without pain, and with a minimum residual adduction of the forefoot.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4979856&req=5

Figure 7: Clinical control 2 years after surgery: the patient walks properly, without pain, and with a minimum residual adduction of the forefoot.
Mentions: The patient has now turned 2 years of age, and ambulates properly without pain and with a minimum residual adduction of the forefoot, but without any stiffness (Fig. 7). He is continuing a medical therapy with neridronate (therapeutic dose: 2 mg/kg i.v. every 3 months) at our center, according to the OI protocol of treatment. The patient is followed and controlled periodically in our Center for Reference and Treatment of Congenital Osteodystrophies, in the Pediatrics Department of the Policlinico Umberto I Hospital.

Bottom Line: Now, he is 2 years old and has started to walk properly without any orthesis.In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI.In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.

View Article: PubMed Central - PubMed

Affiliation: aUniversitary Department of Anatomic, Histologic, Forensic and Locomotor Apparatus Sciences-Section of Locomotor Apparatus Sciences, Sapienza University of Rome bCenter for Congenital Osteodystrophies, Pediatric Department-Policlinico Umberto I, Italy.

ABSTRACT

Background: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures. This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III. Patient's mother also suffers from OI type IV.

Methods: The treatment was started by placing femoro-podalic corrective casts, according to the Ponseti method, but some unexpected problems occurred during this treatment. When the patient was 3 months of age, we decided to correct the clubfoot before the time limit planned, performing a bilateral posteromedial surgical release.

Results: Three weeks after surgery the casts were removed and replaced with bilateral Spica cast-like braces. On the 6th postoperative week, the patient began wearing Bebax corrective shoes, after 1 year ambidextrous orthopedic shoes. Now, he is 2 years old and has started to walk properly without any orthesis.

Conclusion: In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI. The final surgical treatment to correct the clubfoot can be done earlier, if necessary. In our opinion, this uncommon association between OI and clubfoot is non-syndromic. This means that the two congenital diseases are not necessarily included in a singular uncommon genetic syndrome, but the clubfoot was caused by multifactorial causes, especially by both the mother's bisphosphonate drug therapy and the amniocentesis performed during her pregnancy to drain polyhydramnios. In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.

No MeSH data available.


Related in: MedlinePlus