Airway manifestations of chondrodysplasia punctata

Seguin, John; Baugh, Reginald F.; McIntee, Rae A.

doi:10.1016/0165-5876(93)90040-a

Cited by 9 publications

(2 citation statements)

References 15 publications

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“…11 However, mild features can sometimes be identified in first-degree relatives after careful examination. 5,12 The incidence of the disease is unclear, although one series reported an estimate of greater than one in 30 000 live births for all types, suggesting it is not especially rare. 4 Brachytelephalangic chondrodysplasia punctata is known to involve the upper airways and can cause significant obstruction.…”

Section: Discussionmentioning

confidence: 99%

Chondrodysplasia punctata: case report and review of audiological and ENT features

et al. 2005

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Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristic epiphyseal stippling. The condition can involve the ear, nose and throat in diverse ways at many levels. We present a case of X-linked brachytelephalangic chondrodysplasia punctata, which illustrates the features of this condition particularly relevant to the audiological physician, otolaryngologist and neonatologist.

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Section: Discussionmentioning

confidence: 99%

Chondrodysplasia punctata: case report and review of audiological and ENT features

et al. 2005

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“…Most striking imaging appearance is stippling of the bones. [ 26 ] This feature can be seen involving long bone epiphyses, carpal and tarsal bones and even involving the vertebral bodies. Coronal clefts can be seen in dorsolumbar vertebrae [ Figure 14 ].…”

Section: Specific Disease Entitiesmentioning

confidence: 99%

Spine radiograph in dysplasias: A pictorial essay

Gabra

Jana

Naranje

et al. 2020

Indian Journal of Radiology and Imaging

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Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. In this article we will discuss about a few common lethal and non-lethal skeletal dysplasias and their characteristic imaging findings; primarily focusing on the spine radiograph.

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