Article
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
American journal of medical genetics. Part A - 1 Jul 2009
Graul-Neumann Luitgard M, Bach Alexia, Albani Michael, Ringe Hannelore, Weimann Andreas, Kress Wolfram, Hiort Olaf, Bartsch Oliver
Abstract excerpt
We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. Because of progressive hydrocephaly, the synostosis was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.