Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy

Vogel, Timothy W.; Menezes, Arnold H.

doi:10.1007/s00381-012-1694-z

Cited by 12 publications

(22 citation statements)

References 33 publications

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“…The child had generalized hypotonia, exaggerated deep tendon reflexes in the lower limbs, and by 20 months, the child was quardriplegic. Recently, Vogel and Menezes (2012) have performed a systematic review of the English literature on patients with cervical spine abnormality associated with chondrodysplasia punctata or WE. They stressed the importance of regular neurological examination and appropriate management to prevent progressive neurological deterioration.…”

Section: Discussionmentioning

confidence: 99%

Atlantoaxial dislocation in a child affected by warfarin embryopathy

Agarwal

Phadke

2013

Clinical Dysmorphology

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Section: Discussionmentioning

confidence: 99%

Atlantoaxial dislocation in a child affected by warfarin embryopathy

Agarwal

Phadke

2013

Clinical Dysmorphology

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“…In general, according to literature since the 70's until 2007 about 81 cases of chondrodysplasia punctata were reported in the world, including Brazil, North America, Europe, and other coun- tries. According to some studies, the ratio of females to males is 36:0 [12][13][14][15][16].…”

Section: Discussionmentioning

confidence: 99%

Ortho‐surgical management of a Conradi–Hünermann syndrome patient: rare case report

Filho¹,

Cardoso²,

Caldeira

et al. 2015

Clinical Case Reports

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“…Table 1 presents a compilation of clinical and radiological symptoms as well as genetic data regarding specific comorbidities coexisting with chondrodysplasia punctuata based on the available literature [1–6,9,11–14]. …”

Section: Discussionmentioning

confidence: 99%

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

Dobrzańska

2013

Pol J Radiol

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SummaryBackground:Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome.Case Report:This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP.Conclusions:Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy.Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.

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Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy

Abstract: This study emphasizes the need for careful neurological and surgical evaluation of pediatric patients with cervical spine abnormalities affected by CDP or CE in order to prevent progressive instability.

Cited by 12 publications

References 33 publications

Atlantoaxial dislocation in a child affected by warfarin embryopathy

Atlantoaxial dislocation in a child affected by warfarin embryopathy

Ortho‐surgical management of a Conradi–Hünermann syndrome patient: rare case report

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

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