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PubMed1995

Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis--results and unsolved problems.

As the second of a two-part series, 76 patients with pansynostosis and craniofacial synostosis syndromes were retrospectively analyzed. Diagnoses included pansynostosis (7), craniofrontonasal dysplasia (8), and Apert (24), Crouzon (15), and Pfeiffer (15) syndromes. All patients underwent primary fronto-orbital advancement-calvarial vault remodeling procedures at less than 18 months of age (mean 6.1 months). Twenty-eight patients (36.8 percent) required a secondary cranial vault operation (mean age 28.4 months). Additionally, a major tertiary procedure was necessary in 5 patients to deal with persistent unacceptable craniofacial form. To address the associated finding of midface hypoplasia, 64.8 percent (n = 35) of patients underwent Le Fort III midface advancement or had that procedure recommended for them. The remainder were awaiting appropriate age for this reconstruction. The more extensive pathologic involvement of the pansynostosis and craniofacial syndrome group is illustrated. As compared with the isolated craniofacial synostosis group previously reported, the incidence of major secondary procedures (36.8 versus 13.5 percent), perioperative complications (11.3 versus 5.0 percent), follow-up complications (44.7 versus 7.7 percent), hydrocephalus (42.1 versus 3.9 percent), shunt placement (22.4 versus 1.0 percent), and seizures (11.8 versus 2.9 percent) was significantly increased. Complex problems including those of increased intracranial pressure, airway obstruction, and recurrent turricephaly or cranial vault maldevelopment are repeatedly encountered. In addition, that early fronto-orbital advancement-cranial vault remodeling failed to promote midface development and hypoplasia of this region is almost a consistent finding in the craniofacial syndromic group. The average length of postoperative follow-up was 6 years. According to the classification of Whitaker et al., which assesses surgical results, 73.7 percent of patients were considered to have at least satisfactory craniofacial form (category I-II) at latest evaluation. An algorithmic approach to the treatment of all patients with craniosynostosis is presented utilizing early surgical intervention as the key element.

Acrocephalosyndactylia↗
PubMed1995

Crouzon and Apert syndromes: intracranial volume measurements before and after cranio-orbital reshaping in childhood.

This study applied a proven method for obtaining intracranial volume (ICV) measurements using computed tomographic scans to document ICVs in children with Crouzon and Apert syndrome before and after cranio-orbital reshaping procedures. Their ICV also was compared with those of an age- and gender-matched cohort and reviewed their rate of cranial expansion. The study included 21 children who presented sequentially with Crouzon (n = 13) or Apert (n = 8) syndrome between 1987 and 1991 and who subsequently underwent a standard first-stage cranio-orbital reconstruction by the senior author (J.C.P.) in conjunction with a pediatric neurosurgeon. The primary method of osteotomy and bone graft fixation varied (i.e., wires, microplates, miniplates, and screws). The series included 16 females and 5 males with an average age at the time of operation of 13 months (range, 6 to 46 months). The postoperative clinical follow-up ranged from 12 to 60 months at the time of the study's completion. Comparison of the IVCs of the Apert patients preoperatively and postoperative with age and gender control volumes showed that six of eight had volumes at least 2 SD above the mean. Postoperatively, the trend continued with all eight patients followed longitudinally; all maintained volumes in excess of 2 standard deviations above the mean. Preoperatively, for the Crouzon children evaluated, 12 of 13 had ICV values greater than the mean. When comparing the patients' postoperative volumes to the normative data, all 13 maintained values at or greater than the mean at the time of their postoperative determination. Ten of the 13 achieved ICVs at or greater than 2 SD above the mean. When reviewing each Crouzon patient's cranial capacity over time, 5 of the 13 approximated the normal growth curve whereas 6 of the 13 exceeded it. This study confirms that Apert patients are macrocephalic before and after standard cranio-orbital procedures carried out in childhood. For the majority of children born with Crouzon syndrome, the cranial capacity will exceed the mean early in life and expand at a rapid rate after cranio-orbital decompression. The biologic explanation for these findings remain unclear.

Acrocephalosyndactylia↗
PubMed1995

Psychosis in Apert's syndrome with partial agenesis of the corpus callosum.

A 19-year-old male with Apert's syndrome developed psychotic symptoms that responded to haloperidol. He was also found to have partial agenesis of the corpus callosum and enlarged lateral ventricles on a head CT scan. The implications of these findings in the context of psychotic symptoms are discussed. There are no previous reports of psychosis in patients with Apert's syndrome.

Acrocephalosyndactylia↗
PubMed1995

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand binding and dimerization. The fact that one patient did not have a mutation in the same exon suggests further genetic heterogeneity in Apert syndrome. The frequencies of occurrence or means for measurements of 29 different clinical features (including severity of craniofacial features, syndactyly of the hands and feet, and multisystem involvement) were determined for all patients and for the two subgroups defined by their mutations. Comparison between the subgroups for the different clinical features was performed and suggested no statistically significant differences. These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.

Acrocephalosyndactylia↗
PubMed1994

Apert syndrome, an antenatal ultrasound detected case.

Apert's syndrome or acrocephalosyndactyly type I is an autosomal dominant craniosynostosis syndrome with abnormalities of the hands and feet. Most cases occur as new mutations. Mental retardation is frequent because of central nervous system abnormalities. A case of Apert's syndrome detected by antenatal ultrasound examination is reported by the authors.

Abortion, Eugenic↗
PubMedDate not supplied

Cranial size and configuration in the Apert syndrome.

The cranial size and configuration of the Apert cranium are unique. True megalencephaly is characteristic, postmortem brain weights being dramatically increased above the 95th centile regardless of age. In addition, all Apert newborn infants have coronal synostosis with a widely patent midline calvarial defect. Thus, the head is unusually heavy and the cranium is disproportionately high. These characteristics, which are present at birth, result in a mean newborn length and weight above the 50th centile. The widely patent midline calvarial defect, allowing the brain to expand anteriorly into the metopic area, and some increase in the head breadth permit the mean head circumference at birth to normalize slightly above the 50th centile. In our series of surgically unoperated patients of different ages from the 1960s and earlier, most head circumference values fall below the mean but within or at -2 SD. Thus, the natural history of the unoperated growing cranium, beginning slightly above the 50th centile at birth, consists of a slowing of head circumference expansion to a greater degree than normal. Studies of intracranial volume show that mean adult male and female volumes far exceed normal adult values. Cranial shape is distinctive with head breadth either being normal or slightly increased, head length being significantly shortened, and head height being dramatically increased. The mean cephalic index is hyperbrachycephalic. Sexual dimorphism is found, with higher values in females than in males; the cause is unknown, although the contributing component appears to be head breadth. The disproportionately high cranium in the Apert syndrome is dramatically shown by the great differences from normal in the head height/head breadth index and in the head height/head length index. Finally, the crania of Apert and Crouzon syndromes are compared in terms of size, shape, and volume. For Crouzon syndrome, the mean adult cephalic index is normocephalic and the mean adult intracranial volume is smaller than normal.

Acrocephalosyndactylia↗
PubMed1994

[Case of Aperts'-Crouzon syndrome in a 6-year old boy].

A congenital disorder syndrome defined by literature as the Alperts'-Crouzon has been described for a six-year-old boy. Introduction of this case seems to be justified noting the rarity of its occurrence.

Acrocephalosyndactylia↗
PubMed1994

Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.

The locus for Saethre-Chotzen syndrome, a common autosomal dominant disorder of craniosynostosis and digital anomalies, was previously mapped to chromosome 7p between D7S513 and D7S516. We used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage was to locus D7S664 (Z = 7.16, theta = .00). Chromosomes from a Saethre-Chotzen syndrome patient with t(2;7) (p23;p22) were used for in situ hybridization with YAC clones containing D7S664 and D7S507. The D7S664 locus was found to lie distal to the 7p22 breakpoint, and the D7S507 locus was deleted from the translocation chromosomes. These genetic and physical mapping data independently show that the disease locus resides in this interval.

Acrocephalosyndactylia↗
PubMedDate not supplied

Unusual cranial aspects of the Apert syndrome.

Frank cloverleaf skull is found in approximately 4% of Apert-syndrome infants. However, the usual Apert skull and its cloverleaf form are spectral in nature. In all patients, the temporal bones are obliquely situated, and the degree to which this is so determines whether no, mild, moderate, or severe cloverleafing will occur. True encephalocele rarely is found in the Apert syndrome, but pseudoencephalocele in the frontal region sometimes is confused with it. Because the Apert calvaria at birth is characterized by a widely gaping midline defect, the midfrontal region of the brain is not covered by bone during early infancy. However, with time, closure of the midline defect occurs by coalescence of bony islands, thus covering the pseudoencephalic region. Also discussed in this paper are (a) atypical calvarial development with patency of the coronal sutures in one case, (b) size and position of the temporal muscles, and (c) size and position of the superficial temporal fat pads.

Abnormalities, Multiple↗
PubMedDate not supplied

[Polydactylia].

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Abnormalities, Multiple↗