Incidence of perinatal complications in children with premature craniosynostosis

Weber, Benedikt; Schwabegger, Anton H.; Oberaigner, Wilhelm; Rumer-Moser, Astrid; Steiner, H.

doi:10.1515/jpm.2010.028

Cited by 16 publications

(34 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Craniosynostosis may interfere with the molding of the skull and preclude a normal birth [6]. Furthermore, infants affected by craniosynostosis are at increased risk of having concomitant complex abnormalities of the upper airway and elevated intracranial pressure [7] and may require ventilatory support or neurosurgical intervention early after birth, thus justifying the need for prenatal diagnosis and counseling.…”

Section: Discussionmentioning

confidence: 99%

The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis?

et al. 2018

View full text Add to dashboard Cite

Antenatal imaging of craniosynostosis mainly relies on the demonstration with 2D ultrasound of the abnormal contour of the calvarium and of the loss of hypoechogenicity of the synostotic sutures and on indirect signs of premature closure of the skull sutures; however, isolated craniosynostosis is detected only sporadically at prenatal ultrasound. In this article, we present the first case to our knowledge in which the “brain shadowing sign,” a recently described indirect sign of craniosynostosis, noted at 24 weeks in a structurally normal fetus, was the first clue for the diagnosis of isolated bilateral coronal craniosynostosis, which became evident at late gestation.

show abstract

Section: Discussionmentioning

confidence: 99%

The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis?

et al. 2018

View full text Add to dashboard Cite

show abstract

“…This treatment was highly efficacious for rescuing long bone defects seen in these patients, yet many children still manifested craniosynostosis [26]. Because craniosynostosis develops during fetal or early postnatal life and cannot be reversed without surgery after it has occurred [27–29], we hypothesize that treatment must be initiated at earlier developmental time points to affect craniosynostosis.…”

Section: 1 Introductionmentioning

confidence: 99%

Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia

Liu

Campbell

Nam

et al. 2015

Bone

View full text Add to dashboard Cite

Hypophosphatasia (HPP) is an inborn-error-of-metabolism disorder characterized by deficient bone and tooth mineralization due to loss-of function mutations in the gene (Alpl) encoding tissue-nonspecific alkaline phosphatase (TNAP). Alpl−/− mice exhibit many characteristics seen in infantile HPP including long bone and tooth defects, vitamin B6 responsive seizures and craniosynostosis. Previous reports demonstrated that a mineral-targeted form of TNAP rescues long bone, verterbral and tooth mineralization defects in Alpl−/− mice. Here we report that enzyme replacement with mineral-targeted TNAP (asfotase-alfa) also prevents craniosynostosis (the premature fusion of cranial bones) and additional craniofacial skeletal abnormalities in Alpl−/− mice. Craniosynostosis, cranial bone volume and density, and craniofacial shape abnormalities were assessed by microsocopy, histology, digital caliper measurements and micro CT. We found that craniofacial shape defects, cranial bone mineralization and craniosynostosis were corrected in Alpl−/− mice injected daily subcutaneously starting at birth with recombinant enzyme. Analysis of Alpl−/− calvarial cells indicates that TNAP deficiency leads to aberrant osteoblastic gene expression and diminished proliferation. Some but not all of these cellular abnormalities were rescued by treatment with inorganic phosphate. These results confirm an essential role for TNAP in craniofacial skeletal development and demonstrate the efficacy of early postnatal mineral-targeted enzyme replacement for preventing craniofacial abnormalities including craniosynostosis in murine infantile HPP.

show abstract

“…A retrospective study including 618 cases of isolated craniosynostosis revealed that only 2 cases (0.3%) were known to have been diagnosed prenatally [16]. Although the majority of recent reports on prenatal diagnosis of suture fusion anomalies are related to syndromic cases [17][18][19][20][21], they contribute to detection of nonsyndromic craniosynostosis. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

“…However, in a retrospective study of fetuses at risk for craniosynostosis, dysmorphology and skull deformity preceded closure of the sutures by 4 to 16 weeks [2]. In a population at risk for this condition, the positive predictive value of direct examination of the sutures may be high, while in low-risk pregnancies it may be minimal, and further investigation may be necessary (3D ultrasound, CT scan or MRI) [2,20].…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

et al. 2016

View full text Add to dashboard Cite

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

show abstract

Incidence of perinatal complications in children with premature craniosynostosis

Abstract: Children diagnosed with craniosynostosis have a significantly higher rate of numerous birth complications compared to the overall births documented at the Birth Registry of Tyrol.

Cited by 16 publications

References 21 publications

The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis?

The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis?

Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

Contact Info

Product

Resources

About