Cases reported "Craniosynostoses"

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1/85. Raised intracranial pressure in minimal forms of craniosynostosis.

    Most cases of craniosynostosis are diagnosed during early infancy, but occasionally craniosynostosis evolves with minimal cranial involvement and goes unnoticed until late childhood. Seemingly these mild forms of craniosynostosis cause few, if any, symptoms of neurological involvement. We describe the cases of a 9-year-old girl and a 6-year-old boy who presented with evident signs of raised intracranial pressure (ICP), together with a negligible skull deformity. We have termed these cases as occult craniosynostosis. Differential diagnosis in our patients was established against known causes of benign intracranial hypertension. Bilateral expanding craniotomies afforded total relief from the symptoms and signs of raised ICP. Neurosurgeons treating children with symptoms and signs of benign intracranial hypertension should be aware of the possibility of minimal forms of craniosynostosis evolving with marked manifestations of raised ICP.
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2/85. Musculoskeletal manifestations of the Antley-Bixler syndrome.

    The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases.
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3/85. Management of the ventricular shunt in posterior deformities of the skull in craniosynostosis.

    The existence of an occipitoparietal cerebrospinal fluid shunt complicates the attempt to remodel posterior skull deformities in craniosynostosis. A composite method to reposition the shunt hardware is described and discussed.
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4/85. Cloverleaf skull anomaly with extreme orbitostenosis.

    A neonate presented with cloverleaf skull anomaly and severe proptosis requiring urgent cranioplasty to attain eyelid closure. Despite this, she experienced exposure keratitis and corneal perforations. A ventriculoperitoneal shunt was performed subsequently to relieve hydrocephalus, but respiratory problems eventually led to her death at 6 months. This case highlights the complexity of the problems encountered in the cloverleaf skull anomaly, and a brief review discussing its management is included. Despite improvements in treatment of this condition, the overall prognosis remains poor.
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keywords = skull
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5/85. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

    Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.
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6/85. Congenital torticollis in association with craniosynostosis.

    The incidence of congenital torticollis in association with plagiocephaly is 1 in 300 newborns, with the torticollis resulting from pathologically sustained contraction of the sternocleidomastoid. Such conditions as facial asymmetries, craniovertebral anomalies, cervical hemivertebra, and mono- or polydysostoses may also be associated with torticollis diagnosed during the neonatal period. With particular reference to synostotic (coronal and/or lambdoidal) plagiocephaly, a clear distinction is made in this paper between posterior neurocranial flattening secondary to the sustained rotation of the skull resulting from torticollis and that seen in synostotic plagiocephaly. The rarity of torticollis with sustained contraction of the sternocleidomastoid muscle relative to the frequency of occipital-parietal flattening in newborn kept in the supine position has not been discussed in the literature and is therefore of clinical importance. In light of the fact that the prognosis and, consequently, the treatment plan vary directly with the presence or absence of synostoses, clinical evaluation also includes cephalometrics, plain skull x-rays, and CT imaging. If the torticollis is associated with neurocranial deformity but synostosis is absent, cervical traction and physiotherapy resolve the symptoms. When, however, the clinical picture is complicated by synostotic plagiocephaly, corrective surgery is necessary, though cervical traction and physiotherapy are essential to provide early and complete cure of the torticollis.
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7/85. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

    Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now. We evaluated three unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanelle, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/ atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise, seizures, and two died by age 15 months. All three cases were found to have the same FGFR2 Ser351Cys (1231C to G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, two patients with Peters plus syndrome, and three cases with typical Antley-Bixler syndrome were screened for this mutation, but none was found. These phenotype/genotype data demonstrate that FGFR2 is involved in the development of the anterior chamber of the eye and that the Ser351Cys mutation is associated with a severe phenotype and clinical course.
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8/85. Early experience with poly L-lactic acid bioabsorbable fixation system for paediatric craniosynostosis surgery. Report of 3 cases.

    OBJECTIVE: The authors describe early experience in the use of bioabsorbable fixation devices for cranial reconstruction of paediatric craniosynostosis patients. methods: Three patients, individually respectively presenting sagittal synostosis, metopic synostosis, and clover leaf skull deformity, underwent cranial reconstruction using poly L-lactic acid (PLLA) plates and screws. The patients ranged in age from 2 to 10 months at the time of surgery. The postoperative clinical follow-up ranged from 16 to 18 months. All patients showed satisfactory wound healing without signs of infection or local inflammation. The plates provided satisfactory fixation and were not palpable through the skin after 16 to 18 postoperative months. CONCLUSION: Our experience demonstrated the efficacy of PLLA bioabsorbable plates and screws for cranial reconstruction in cases of infant craniosynostosis. prospective studies and longer follow-up of a larger number of patients is desirable for confirmation of these findings.
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9/85. Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature.

    The case of a girl with cloverleaf skull (CLS) and multiple congenital anomalies is reported. Both parents have a history of drug use. Maternal cocaine abuse during the first trimester of pregnancy was obvious, and other drugs, such as marihuana and alcohol, were also taken by the mother. Many central nervous system malformations have been reported in association with cocaine abuse, the most severe being midline defects and neural tube defects. To our knowledge this is the first case reported of CLS anomaly associated with drug exposure. We also describe other anomalies not previously reported in association with CLS.
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keywords = skull
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10/85. A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

    Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1, -2 and -3) and TWIST genes have been identified in several syndromic forms of craniosynostosis. There remains, however, a significant number of patients with non-syndromic craniosynostosis in whom no genetic cause can be identified. We describe a novel heterozygous mutation of FGFR2 (943G --> T, encoding the amino acid substitution Ala315Ser) in a girl with non-syndromic unicoronal craniosynostosis. The mutation is also present in her mother and her maternal grandfather who have mild facial asymmetry but do not have craniosynostosis. None of these individuals has the Crouzonoid appearance typically associated with FGFR2 mutations. However, the obstetric history revealed that the proband was in persistent breech presentation in utero and was delivered by Caesarean section, at which time compression of the skull was apparent. We propose that this particular FGFR2 mutation only confers a predisposition to craniosynostosis and that an additional environmental insult (in this case foetal head constraint associated with breech position) is necessary for craniosynostosis to occur. To our knowledge, this is the first report of an interaction between a weakly pathogenic mutation and intrauterine constraint, leading to craniosynostosis.
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