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2.
An Pediatr (Engl Ed) ; 97(6): 415-421, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36266188

RESUMO

INTRODUCTION: Shoulder dystocia is a nonpreventable obstetric emergency that causes severe complications, such as obstetric brachial plexus palsy. The objective of the study was to determine the incidence of obstetric brachial plexus palsy and other neonatal complications associated with shoulder dystocia in deliveries managed in a university hospital after the implementation of a simulation-based training that was offered to all the labour and delivery staff on a voluntary basis. MATERIAL AND METHODS: Retrospective observational study including all cases of shoulder dystocia and associated complications (mainly obstetric brachial plexus palsy) documented between January 2017 and December 2020, after the implementation of the training. In addition, we collected retrospective data on cases of obstetric brachial plexus palsy that developed in the hospital before the training (2008-2016). RESULTS: In the 2017-2020 period, in the total of 125 cases of shoulder dystocia (amounting to 1.38% of vaginal deliveries), there were 14 cases of obstetric brachial plexus palsy (11.2% of the cases of shoulder dystocia), 7 clavicle fractures and 1 humerus fracture; none of the cases of obstetric brachial plexus palsy was permanent or required treatment or rehabilitation past six months. In the years preceding the training, there were 7 cases of obstetric brachial plexus palsy, 2 permanent and 5 temporary (3 of which required rehabilitation). CONCLUSION: These results reflect the importance of knowing the morbidity present in the labour and delivery ward and the potential benefit of simulation-based training programmes in the resolution of these obstetric complications.


Assuntos
Neuropatias do Plexo Braquial , Plexo Braquial , Distocia , Distocia do Ombro , Gravidez , Recém-Nascido , Feminino , Humanos , Distocia do Ombro/epidemiologia , Distocia do Ombro/terapia , Distocia/epidemiologia , Distocia/terapia , Distocia/etiologia , Estudos Retrospectivos , Neuropatias do Plexo Braquial/etiologia , Neuropatias do Plexo Braquial/complicações , Paralisia/complicações
3.
Arch. argent. pediatr ; 119(2): e129-e132, abril 2021. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1152024

RESUMO

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.


The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.


Assuntos
Humanos , Masculino , Recém-Nascido , Acrocefalossindactilia , Suturas Cranianas/diagnóstico por imagem , Anormalidades Congênitas , Craniossinostoses
4.
Arch Argent Pediatr ; 119(2): e129-e132, 2021 04.
Artigo em Espanhol | MEDLINE | ID: mdl-33749202

RESUMO

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.


El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.


Assuntos
Acrocefalossindactilia , Acrocefalossindactilia/diagnóstico , Acrocefalossindactilia/genética , Suturas Cranianas , Heterozigoto , Humanos , Recém-Nascido , Proteínas Nucleares/genética , Proteína 1 Relacionada a Twist/genética
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