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Case Reports
. 2001 Feb;8(2):176-80.
doi: 10.1016/s0929-693x(00)00181-0.

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology]

[Article in French]
E Malou  1 , J Gekas, V Troucelier-Lucas, E Mornet, L Razafimanantsoa, B Cuvelier, M Mathieu, F Thépot
Affiliations
Case Reports

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology]

[Article in French]
E Malou et al. Arch Pediatr. 2001 Feb.

Abstract

Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized.

Case report: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder.

Conclusion: In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology.

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