Arch Otolaryngol Head Neck Surg
Department of Otolaryngology-Head & Neck Surgery and McKusick-Nathans Institute for Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Published: December 2004
The X-linked recessive form of chondrodysplasia punctata, characterized by chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.
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http://dx.doi.org/10.1001/archotol.130.12.1423 | DOI Listing |
Cureus
December 2024
Physical Medicine and Rehabilitation, Unidade Local de Saúde de Lisboa Ocidental, Lisbon, PRT.
Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging.
View Article and Find Full Text PDFCardiol Young
November 2024
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
We present a 2-month-old girl with chondrodysplasia punctata in whom bilateral peripheral pulmonary artery stenoses were successfully treated by transcatheter balloon angioplasty. The minimal diameters of the right and left pulmonary arteries of 1.3 mm and 1.
View Article and Find Full Text PDFBMC Med Genomics
October 2024
NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, No. 53 Xiangchun Road, Changsha, 410008, Hunan, China.
Background: X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. ARSL (formerly known as ARSE), a member of the sulfatase gene family located on Xp22.3, has been identified as the causative gene for CDPX1.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
November 2024
Department of Otolaryngology Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA; Division of Pediatric Otolaryngology Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.
Mol Syndromol
October 2024
Department of Medical Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
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