Abstract | OBJECTIVE: CLINICAL PRESENTATION: The first case was a 1-day-old female with Arnold-Chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. DISCUSSION: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. CONCLUSION:
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Authors | H J Lee, D Y Cho, F J Tsai, W C Shen |
Journal | Pediatric neurosurgery
(Pediatr Neurosurg)
Vol. 34
Issue 1
Pg. 33-9
(Jan 2001)
ISSN: 1016-2291 [Print] Switzerland |
PMID | 11275784
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnosis, surgery)
- Arnold-Chiari Malformation
(diagnosis, surgery)
- Bone Diseases, Developmental
(diagnosis, surgery)
- Craniosynostoses
(diagnosis, surgery)
- Craniotomy
- Fatal Outcome
- Female
- Humans
- Hydrocephalus
(diagnosis, surgery)
- Imaging, Three-Dimensional
- Infant
- Infant, Newborn
- Syndrome
- Tomography, X-Ray Computed
- Ventriculoperitoneal Shunt
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