- 作者：R. Vidal Sanahuja ; E. Gean Molins ; C. S¨¢nchez Garr¨¦ ; J. Quilis Esquerra ; G. Garc¨ªa Fructuoso ; J.M. Costa Clara
- 关键词：Acantosis nigricans ; Antley-Bixler ; Apert ; Beare-Stevenson ; Craneosinostosis ; Crouzon ; FGFR1 ; FGFR2 ; FGFR3 ; Jackson-Weiss ; Muenke ; Enanismo en sacabocados ; Pfeiffer ; Saethre-Chotzen
- 刊名：Anales de Pediatr¨ªa
- 出版年：2012
- 出版时间：October, 2012
- 年：2012
- 卷：77
- 期：4
- 页码：272-278
- 全文大小：684 K
Introduction
Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80 % are ¡°non syndromic¡±, although but 10-14 % of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed.
Patients and methods
Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed.
Results
We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features.
Conclusions
Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered.