There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s00256-009-0716-8 | DOI Listing |
Appl Clin Genet
November 2024
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.
Childs Nerv Syst
December 2024
Sleep Medicine, Stanford University, Stanford, CA, USA.
Childs Nerv Syst
November 2024
Department of Clinical Genetics, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark.
Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s).
View Article and Find Full Text PDFChilds Nerv Syst
November 2024
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!