GAPO syndrome with craniosynostosis and intracranial hypertension
GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy. It was reported to be associated with craniosynostosis and intracranial hypertension.
A patient with such a rare disorder associated with multisuture craniosynostosis and headache is presented. Surgery has been done due to intracranial hypertension.
Abnormal intraoperative findings including sever pericranium and dural adhesions and extraordinary bleeding related to this syndrome are described.
KeywordsGAPO syndrome Craniosynostosis Pericranium Dura
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- 1.Andersen THPJ (1947) Et tilfaelde of total pseudoanodontia forbindelsemedcraniedeformitet, dvaergvaekst og ektodermal dysplasia. Odont Tids 484–493Google Scholar
- 3.Goucha S, Mnif N, Bouhala T, Tenzakhti F, El HA, Fazaa B, Hamza R, Kamoun M (2002) Value of imaging in GAPO syndrome. J Radiol 83:153–156Google Scholar
- 7.Stranecky V, Hoischen A, Hartmannova H, Zaki MS, Chaudhary A, Zudaire E, Noskova L, Baresova V, Pristoupilova A, Hodanova K, Sovova J, Hulkova H, Piherova L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martasek P, Baxova A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S (2013) Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet 92:792–799. https://doi.org/10.1016/j.ajhg.2013.03.023 CrossRefGoogle Scholar
- 9.Wajntal A, Koiffmann CP, Mendonca BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM (1990) GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet 37:213–223. https://doi.org/10.1002/ajmg.1320370210 CrossRefGoogle Scholar