A Case of Chondrodystrophia Calcificans Congenita

Paul, S.; Rao, Priyanka; Mullick, P.; Kalliana, P.

doi:10.1136/adc.38.202.632

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…There are numerous syndromes that present with a combination of dwarfism and CVJ anomalies. [ 4 5 6 7 8 9 10 11 12 13 14 15 16 ] These are all distinct syndromes with easily recognizable clinical features and/or skeletal changes. Their clinical features are summarized in Table 1 .…”

Section: Discussionmentioning

confidence: 99%

Atlantoaxial dislocation in a patient with nonsyndromic symmetrical dwarfism: Report of a rare case

Ram

Madhugiri

Kumar

et al. 2015

J Craniovert Jun Spine

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Congenital anomalies of the craniovertebral junction (CVJ) are complex developmental defects. We describe a patient with atlantoaxial dislocation (AAD) and short stature whose morphopathologydid not fit into any of the previously described syndromic constellations. The patient underwent a reduction of the AAD followed by fixation with C1-C2 transarticular screws. Although numerous syndromes have been linked to both dwarfism and craniovertebral junction anomalies, this patient did not fit into any of these patterns. It is possible that this may be one of the many as yet unrecognized patterns of congenital anomalies.

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Section: Discussionmentioning

confidence: 99%

Atlantoaxial dislocation in a patient with nonsyndromic symmetrical dwarfism: Report of a rare case

Ram

Madhugiri

Kumar

et al. 2015

J Craniovert Jun Spine

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“…The association of eye and bone lesions led us to compare our cases with chondrodystrophia calcificans congenita (Paul et al 1963), which is often but not invariably associated with bilateral congenital cataract. In no cases of this condition is there any mention of auditory defect of retinal detachment.…”

Section: The Bone Lesionsmentioning

confidence: 99%

A Childhood Syndrome of Bone Dysplasia, Retinal Detachment and Deafness

Roaf

Longmore

Forrester³

1967

Develop Med Child Neuro

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SUMMARY A syndrome of bone dysplasia, pseudoglioma and deafness is described in 4 unrelated children. In 3 cases the bone disorder was the presenting symptom, but in one (which may well represent a separate disorder) the retinal detachment presented first. The children are dwarfed and blind. No common causative factor can be suggested, and no biochemical or chromosome abnormalities were found. These case‐reports, necessarily incomplete, are put forward in the hope that similar cases may be identified. RÉSUMÉ Un syndrome de dysplasie osseuse, décollement de la rétine et surdité chez les enfants On a observé un syndrome de dysplasie, pseudo‐gliome et surdité chez quatre enfants sans relations. Dans trois cas le désordre osseux a été le symptôme révélateur, mais dans un cas, qui pourrait bien représenter un désordre différent, le décollement de la rétine a été le premier observé. Les enfants sont nains et aveugles. On ne peut suggérer aucun facteur commun responsable, et on n'a décelé aucune anomalie biochimique ou des chromosomes. Ces observations, bien qu'incomplètes, sont publicées dans l'espoir de permettre l'identification de cas similaires. ZUSAMMENFASSUNG Ein Kindheits‐Syndrom von Knochen‐Dysplasie, Netzhautablösung und Taubheit Es wird ein Syndrom von Knochen‐Dysplasie, Pseudogliom und Taubheit bei vier, in keiner Beziehung miteinander stehenden Kindern, beschrieben. In drei Fällen war die Knochenkrankheit das vorherrschende Symptom, aber in einem Fall, der sehr wohl eine gesonderte Stöning darstellen kann, war die Netzhautablösung vorherrschend. Die Kinder sind von verkümmertem Wuchs und blind. Es kann auf keinen gemeinsamen, zugrundeliegenden Faktor hingewiesen werden und es wurden keine biochemischen oder chromosomischen Abnormitäten gefunden. Diese notwendigerweise unvollständigen Krankengeschichten werden in der Hoffnung, dass ähnliche Fälle indentifiziert werden, vorgelegt. RESUMEN Un sindrome infantil de displasia ósea, desprendimiento de la retina, y sordeza Se describe un síndrome de displasia ósea, seudoglioma y sordeza en 4 niños de familias distintas. En très casos, la enfermedad ósea se presentó primero, pero en uno (que tal vez represente un desorden distinto) el desprendimiento de la retina se presento primeró. Los niños quedan ciegos y enanos. No se puede sugerir ninguna causa comùn, y no se encontraban ningunas anomahas bioquímicas ni cromosómicas. Se presentan estas comunicaciones, necesariamente incompletas, en la esperanza de que otras casos parecidos podrán identificarse.

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