This paper reports a cephalometric analysis of the craniofacial morphology in adolescents and adu... more This paper reports a cephalometric analysis of the craniofacial morphology in adolescents and adults with Apert syndrome. The sample comprised 26 patients with Apert syndrome (15 males and 11 females). The control group consisted of 153 adults (102 males and 51 females). Both lateral and frontal cephalograms were studied. The data were presented as mean plots of the craniofacial region together with data on some of the most significant findings. Marked differences were found in nearly all craniofacial regions except the mandible. The calvaria was increased in height and width but length was decreased. The cranial base showed marked protrusion of the greater wing of the sphenoid, which contributed to severe reduction of orbital volume and protrusion of the eyeglobe. Orbital volume was further reduced by maxillary hypoplasia in all three planes of space together with retrognathia. Maxillary height was extremely short and so was the nose. The width of the nasal cavity, height and depth of the bony nasopharynx, and the nasopharyngeal airway were all markedly reduced in size. The mandible was of fairly normal size and shape but was posteriorly inclined. Head posture was extended in relation to the cervical column. Total facial height was increased, whereas upper facial height was markedly reduced. Incisor occlusion showed mandibular overjet and open bite. Apert syndrome patients were then compared to a group of Crouzon syndrome patients. Marked and significant differences were found between the two syndromes in nearly all craniofacial regions, and craniofacial dysmorphology was generally more severe in Apert syndrome patients.
Apert’s and Crouzon’s syndromes are both characterized by premature synostosis of craniofacial su... more Apert’s and Crouzon’s syndromes are both characterized by premature synostosis of craniofacial sutures. In addition, patients with Apert’s syndrome have syndactyly of the hands and feet. Both syndromes are transmitted as autosomal dominants. The craniofacial morphology in the two syndromes is somewhat similar, including exophthalmos and midfacial hypoplasia (Figs. l, 2), and it has been suggested that the two diseases are caused by the same genetic defect (Escobar and Bixler 1977).
Objective quantitative methods for standardized reproducible descriptions of the findings of an e... more Objective quantitative methods for standardized reproducible descriptions of the findings of an examination are prerequisite for the optimal care of patients with congenital or acquired craniofacial anomalies. The present report gives a brief review of the development of roentgencephalometry with special emphasis on the infant roentgencephalometric techniques pioneered by Dr. Samuel Pruzansky. In addition, some of the significant findings that have emerged from the application of these techniques to patients with craniofacial anomalies are presented, again, with emphasis on the contributions made by Dr. Pruzansky and co-workers. Finally, perspectives for future clinical and research work within the field are outlined. These perspectives include improvement of cephalometric units for studies of patients with craniofacial anomalies; inclusion of additional cephalometric projections, especially in patients with craniofacial asymmetry; increased utilization of infant cephalometry; utilization of metallic implants in selected cases; greater utilization of computerized cephalometrics and multivariate statistics; and combined use of longitudinal cephalometric studies and various longitudinal physiological examinations, eg, electromyography, kinesiography, and air flow studies, in the individual patient.
Agenesis of the corpus callosum may be associated with a variety of central nervous system (CNS) ... more Agenesis of the corpus callosum may be associated with a variety of central nervous system (CNS) and non-CNS abnormalities and is known to occur in a number of specific syndromes. It can be a marker for several inherited metabolic disorders. Study of the Apert syndrome shows a recurrent pattern of CNS abnormalities, including defects of the corpus callosum and limbic structures, megalencephaly, misshapen brain, distortion ventriculomegaly, and gyral anomalies.
Frank cloverleaf skull is found in approximately 4% of Apert-syndrome infants. However, the usual... more 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.
Our report deals with 8 patients with Crouzon's and Apert's syndromes followed longitudinally wit... more Our report deals with 8 patients with Crouzon's and Apert's syndromes followed longitudinally with roentgencephalometric examinations during the growth period. The purpose of the study was to analyze: presurgical facial growth, the displacement of the maxillary complex in connection with Le Fort III advancement, the stability of the surgical result, and postsurgical facial growth. Presurgical facial growth was characterized by lack of maxillary sutural growth and abnormal remodeling of the maxilla. The surgical displacement of the maxilla consisted of an average advancement of about 10 mm and a backward rotation. The maxilla remained stable following surgery. However, onlay bone grafts tended to resorb over the long term. Postsurgical facial growth revealed lack of maxillary displacement with development of exophthalmos, relative mandibular prognathism, and malocclusion. However, it was concluded that the positive effects of early craniofacial surgery in patients with severe forms of Crouzon's and Apert's syndromes outweigh these disadvantages.
The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the c... more The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the calvaria and its early postnatal development. Skull radiographs of 16 Apert syndrome patients were examined (12 American, 4 Danish; 8 males, 8 females). The criterion for inclusion in the study was that the first skull film had to be obtained before 1 year of age. Study methods employed included plain skull radiographs, roentgencephalometric films in several projections, CT-scans, and 3-D reconstructions. Data from 2 dry skulls and 2 early cases from the literature were also evaluated The following findings were common to all cases during early infancy (less than 3 months): The coronal suture area was prematurely closed and was represented by a bone condensation line beginning at the cranial base, extending upwards, and having a characteristic posterior convexity. Anterior and posterior fontanelles were widely patent. The midline of the calvaria had a gaping defect which extended from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. Bony islands of varying sizes were observed in the midline defect. The calvaria was hypomineralized. During the first 2-4 years of life, the midline defect was obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. The calvaria became thicker with time and several cases developed increased digital markings and enlargement of the sella turcica. During infancy, the Apert skull with its gaping midline defect appears to permit adequate accommodation of the growing brain, albeit distorted in shape. Normal metopic, sagittal, and coronal sutures with interdigitations were not observed in a single instance; in contrast, the lambdoidal sutures appeared normal in all cases. The invariable findings of an extremely short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone condensation line suggest that growth inhibition in the sphenofrontal and coronal suture area has its onset very early in fetal life.
The cranial size and configuration of the Apert cranium are unique. True megalencephaly is charac... more 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.
This paper reports a cephalometric analysis of the craniofacial morphology in adolescents and adu... more This paper reports a cephalometric analysis of the craniofacial morphology in adolescents and adults with Apert syndrome. The sample comprised 26 patients with Apert syndrome (15 males and 11 females). The control group consisted of 153 adults (102 males and 51 females). Both lateral and frontal cephalograms were studied. The data were presented as mean plots of the craniofacial region together with data on some of the most significant findings. Marked differences were found in nearly all craniofacial regions except the mandible. The calvaria was increased in height and width but length was decreased. The cranial base showed marked protrusion of the greater wing of the sphenoid, which contributed to severe reduction of orbital volume and protrusion of the eyeglobe. Orbital volume was further reduced by maxillary hypoplasia in all three planes of space together with retrognathia. Maxillary height was extremely short and so was the nose. The width of the nasal cavity, height and depth of the bony nasopharynx, and the nasopharyngeal airway were all markedly reduced in size. The mandible was of fairly normal size and shape but was posteriorly inclined. Head posture was extended in relation to the cervical column. Total facial height was increased, whereas upper facial height was markedly reduced. Incisor occlusion showed mandibular overjet and open bite. Apert syndrome patients were then compared to a group of Crouzon syndrome patients. Marked and significant differences were found between the two syndromes in nearly all craniofacial regions, and craniofacial dysmorphology was generally more severe in Apert syndrome patients.
Apert’s and Crouzon’s syndromes are both characterized by premature synostosis of craniofacial su... more Apert’s and Crouzon’s syndromes are both characterized by premature synostosis of craniofacial sutures. In addition, patients with Apert’s syndrome have syndactyly of the hands and feet. Both syndromes are transmitted as autosomal dominants. The craniofacial morphology in the two syndromes is somewhat similar, including exophthalmos and midfacial hypoplasia (Figs. l, 2), and it has been suggested that the two diseases are caused by the same genetic defect (Escobar and Bixler 1977).
Objective quantitative methods for standardized reproducible descriptions of the findings of an e... more Objective quantitative methods for standardized reproducible descriptions of the findings of an examination are prerequisite for the optimal care of patients with congenital or acquired craniofacial anomalies. The present report gives a brief review of the development of roentgencephalometry with special emphasis on the infant roentgencephalometric techniques pioneered by Dr. Samuel Pruzansky. In addition, some of the significant findings that have emerged from the application of these techniques to patients with craniofacial anomalies are presented, again, with emphasis on the contributions made by Dr. Pruzansky and co-workers. Finally, perspectives for future clinical and research work within the field are outlined. These perspectives include improvement of cephalometric units for studies of patients with craniofacial anomalies; inclusion of additional cephalometric projections, especially in patients with craniofacial asymmetry; increased utilization of infant cephalometry; utilization of metallic implants in selected cases; greater utilization of computerized cephalometrics and multivariate statistics; and combined use of longitudinal cephalometric studies and various longitudinal physiological examinations, eg, electromyography, kinesiography, and air flow studies, in the individual patient.
Agenesis of the corpus callosum may be associated with a variety of central nervous system (CNS) ... more Agenesis of the corpus callosum may be associated with a variety of central nervous system (CNS) and non-CNS abnormalities and is known to occur in a number of specific syndromes. It can be a marker for several inherited metabolic disorders. Study of the Apert syndrome shows a recurrent pattern of CNS abnormalities, including defects of the corpus callosum and limbic structures, megalencephaly, misshapen brain, distortion ventriculomegaly, and gyral anomalies.
Frank cloverleaf skull is found in approximately 4% of Apert-syndrome infants. However, the usual... more 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.
Our report deals with 8 patients with Crouzon's and Apert's syndromes followed longitudinally wit... more Our report deals with 8 patients with Crouzon's and Apert's syndromes followed longitudinally with roentgencephalometric examinations during the growth period. The purpose of the study was to analyze: presurgical facial growth, the displacement of the maxillary complex in connection with Le Fort III advancement, the stability of the surgical result, and postsurgical facial growth. Presurgical facial growth was characterized by lack of maxillary sutural growth and abnormal remodeling of the maxilla. The surgical displacement of the maxilla consisted of an average advancement of about 10 mm and a backward rotation. The maxilla remained stable following surgery. However, onlay bone grafts tended to resorb over the long term. Postsurgical facial growth revealed lack of maxillary displacement with development of exophthalmos, relative mandibular prognathism, and malocclusion. However, it was concluded that the positive effects of early craniofacial surgery in patients with severe forms of Crouzon's and Apert's syndromes outweigh these disadvantages.
The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the c... more The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the calvaria and its early postnatal development. Skull radiographs of 16 Apert syndrome patients were examined (12 American, 4 Danish; 8 males, 8 females). The criterion for inclusion in the study was that the first skull film had to be obtained before 1 year of age. Study methods employed included plain skull radiographs, roentgencephalometric films in several projections, CT-scans, and 3-D reconstructions. Data from 2 dry skulls and 2 early cases from the literature were also evaluated The following findings were common to all cases during early infancy (less than 3 months): The coronal suture area was prematurely closed and was represented by a bone condensation line beginning at the cranial base, extending upwards, and having a characteristic posterior convexity. Anterior and posterior fontanelles were widely patent. The midline of the calvaria had a gaping defect which extended from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. Bony islands of varying sizes were observed in the midline defect. The calvaria was hypomineralized. During the first 2-4 years of life, the midline defect was obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. The calvaria became thicker with time and several cases developed increased digital markings and enlargement of the sella turcica. During infancy, the Apert skull with its gaping midline defect appears to permit adequate accommodation of the growing brain, albeit distorted in shape. Normal metopic, sagittal, and coronal sutures with interdigitations were not observed in a single instance; in contrast, the lambdoidal sutures appeared normal in all cases. The invariable findings of an extremely short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone condensation line suggest that growth inhibition in the sphenofrontal and coronal suture area has its onset very early in fetal life.
The cranial size and configuration of the Apert cranium are unique. True megalencephaly is charac... more 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.
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