1.
J Plast Reconstr Aesthet Surg
; 83: 484-486, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37384963
2.
J Craniofac Surg
; 34(7): e644-e646, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37259204
RESUMO
Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.