First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192.

Authors

Marie-Laure Vuillaume¹, Anna-Gaelle Valard, Nada Houcinat, Julie Bouron, Cécile Boucher, Sylvie Deves, Jérôme Toutain, Bruno Schaub, Clara Adenet, Didier Lacombe, Michèle Gueneret, Caroline Rooryck

Affiliation

¹ aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

PMID: 28799946
DOI: 10.1097/MCD.0000000000000192

No abstract available

Publication types

Case Reports

MeSH terms

Base Pairing / genetics*
Chromosome Deletion*
Chromosomes, Human, X / genetics*
Comparative Genomic Hybridization
Female
Fetus / abnormalities*
Fetus / diagnostic imaging
Humans
Middle Aged
Osteosclerosis / genetics*
Ultrasonography, Prenatal

Supplementary concepts

Osteopathia striata cranial sclerosis