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 corrected surgically but circulatory 
decompensation led to disseminated intravascular coagulation and cerebral 
infarctions. Our patient died 8 days later. Postmortem molecular studies of 
GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating 
activity polypeptide (gene for PHP1A), identified a de novo heterozygous 3 bp in 
frame deletion predicting a deletion of the asparagine residue at position 377 
(deltaN377). This is the second report of this mutation. Results of molecular 
studies of craniosynostosis genes (FGFR2, FGFR3) and of numerous genetic 
variants predisposing to bleeding disorders were normal. We question whether 
craniosynostosis and trauma-induced bleeding disorder may be manifestations of 
PHP1A, or if our patient had two or three different congenital disorders.