Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.
Department of Obstetrics and Gynecology, Saitama City Hospital, Saitama-shi, Saitama, Japan.
Daigo
D
Ochiai
Kyoko
K
Takamura
Gen
G
Nishimura
Toshiyuki
T
Ikeda
Kazumi
K
Yakubo
Tatsuro
T
Fukuiya
D000328:Adult; D002574:Cervical Vertebrae / Q000473:pathology*; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000175:diagnosis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal
chondrodysplasia punctata brachytelephalangic type; fetal magnetic resonance imaging; prenatal diagnosis; spinal cord compression