Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome

• Published in: Fetal diagnosis and therapy Vol. 28; no. 3; p. 186
• Main Authors: Boulet, S, Dieterich, K, Althuser, M, Nugues, F, Durand, C, Charra, C, Schaal, J P, Jouk, P S
• Format: Journal Article
• Language: English
• Published: Switzerland 01-01-2010
• Subjects: Amniocentesis; Arylsulfatases - genetics; Chondrodysplasia Punctata - diagnosis; Chondrodysplasia Punctata - diagnostic imaging; Chondrodysplasia Punctata - genetics; Face - abnormalities; Face - diagnostic imaging; Female; Genetic Diseases, X-Linked - diagnosis; Genetic Diseases, X-Linked - diagnostic imaging; Genetic Diseases, X-Linked - genetics; Humans; Male; Maxilla - abnormalities; Maxilla - diagnostic imaging; Maxillofacial Abnormalities - diagnostic imaging; Maxillofacial Abnormalities - genetics; Maxillofacial Development; Mutation, Missense; Nose - abnormalities; Nose - diagnostic imaging; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography, Prenatal
• ISSN: 1421-9964
• DOI: 10.1159/000297289

We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype.