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A patient with classical Apert's syndrome is discussed along with the finding of absent superior rectus muscle. This anomaly may be more common than thought, especially in relation to craniofacial anomalies. A review of Apert's syndrome and superior rectus agenesis is presented.
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Two cases of Apert's syndrome (acrocephalosyndactylism), demonstrating typical foot pathology, are presented. A review of the pertinent literature is included, and the new focus on early corrective foot surgery is discussed.
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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.
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Three NIDR-sponsored workshops were conducted with the goal of identifying research needs in treatment and basic sciences relating to a group of severe craniofacial anomalies that are now correctable by new radical surgical procedures. Experts in the fields of developmental biology, neurosurgery and reconstructive craniofacial surgery discussed areas of investigation dealing with etiology, prevention and treatment that are most likely to result in clincally-useful information. In addition the establishment of craniofacial anomalies centers for data collection, treatment and research was examined.
During the study period from January 1985 to December 1994, there were 1105 new cleft cases seen in the Department of Plastic Surgery, Singapore General Hospital. These included newborn as well as unoperated children and adult cases. During the same period, the total number of recorded births in Singapore was 474,542. Out of the 1105 new cleft cases seen, 984 were Singaporeans. The incidence of this hospital-based study of cleft population in Singapore was 2.07 per 1000 livebirths. Chinese had the highest incidence of 1.64 per 1000 as compared to Malay, Indian and other races. The most common type of cleft deformity was complete cleft lip and palate. The left side was found to be more affected than the right side in all types of cleft deformity. There was no significant difference in sex distribution; the male to female ratio was 1.1:1. However, females had a higher incidence of cleft palate than males. Associated congenital deformities occurred in 1.5% of the total cleft population.
Apert syndrome is a rare congenital anomaly characterized by acrocephaly, syndactyly, and abnormalities of other organs. It has characteristic features in the orofacial region, affecting the eyes, palate, middle third of face, and uvula. In this case report, the features of Apert syndrome, particularly in relation to the orofacial region, are discussed.
OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998. RESULTS AND CONCLUSIONS: The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.
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