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[Acrocephalosyndactyly (ACS) (author's transl)].

13 cases of ACS are presented: seven of them were identified as Apert's syndrome; two as Chotzen's syndrome; three as Carpenter's syndrome, and one as Pfeiffer's syndrome. These disorders have no known ethiology. However, it is necessary to look for diabetic antecedents and dermatogliphus alterations, both in the patient and the parents. An attempt to give an explanation of their hereditary penetrance is made. Frequency of associated abnormalities, mental retardation, therapeutics, prognosis, and recent encouraging results of plastic surgery of the face are reviewed.

Abnormalities, Multiple↗

An etiologic and nosologic overview of craniosynostosis syndromes.

In the past, a great deal of confusion in the nosology of craniosynostosis syndromes has been apparent. Such syndromes should never be classified on the basis of which sutures are synostosed nor on the presence or absence of mental retardation. In this paper, they are classified on the basis of overall clinical similarity and genetic considerations. The findings in each syndrome, the genetic aspects and the problems in differential diagnosis are discussed. Disorders presented include the Kleeblattschädel anomaly, Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Christian syndrome, Summitt syndrome, Baller-Gerold syndrome, Lowry syndrome, Gorlin-Chaudhry-Moss syndrome and three sporadic craniosynostosis syndromes. A discussion of spurious craniosynostosis syndrome entities is also presented.

Abnormalities, Multiple↗

The infant Apert skull.

During early infancy, the Apert skull is literally wide open. It is characterized by a gaping midline calvarial defect that extends almost from the root of the nose through the metopic suture area, anterior fontanelle, and sagittal suture area to a widely patent posterior fontanelle. Only the coronal suture area is prematurely fused. During the first 2 to 4 years of life, bony islands that have formed in the midline enlarge and coalesce, obliterating the midline calvarial defect without any evidence of suture formation.

Acrocephalosyndactylia↗

Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome.

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.

Acrocephalosyndactylia↗

Ophthalmic features of craniosynostosis.

With the possible exception of aesthetic considerations, the visual system is more involved in craniosynostosis than any other. Changes may be an inherent feature of the pathologic process or occur as a secondary complication. Several of these are potentially devastating, resulting in substantial permanent impairment in visual function. Because these are avoidable if recognized and managed early, prompt involvement of an ophthalmologist in the care of children with craniosynostosis is essential. Improvement in the appearance of these cases cannot obscure the importance of functional problems. In particular, disc edema, optic atrophy, and progressive optic nerve dysfunction may accompany increased intracranial pressure even without evidence of hydrocephalus and even with apparently open fontanelles. Uncorrected refractive error (particularly anisometropia), strabismus, ptosis, and corneal exposure problems are an invitation to the development of amblyopia. If not reversed, this can lead to permanent visual disability. Proptosis and corneal exposure problems are a third potentially treatable cause of functional blindness. Early diagnosis and prompt care will hopefully continue to improve the prognosis for these increasingly treatable children.

Acrocephalosyndactylia↗

Craniofacial dysostosis. Staging of reconstruction and management of the midface deformity.

Crouzon's and Apert's syndromes are the most common of the craniofacial dysostosis syndromes. A team approach is required to achieve effective patient management. The team evaluation begins shortly after birth and follows the patient through infancy, childhood, and adolescence into early adulthood. The role of each team member varies according to the patient's age and individual circumstances. For example, in infancy and early childhood, constant combined reassessment by the pediatrician, neurosurgeon, ophthalmologist, neuroradiologist, and craniofacial surgeon is essential. Later in adolescence, the role of the ophthalmologist, neuroradiologist, and neurosurgeon becomes less important, whereas that of the orthodontist, speech pathologist, maxillofacial surgeon, and psychosocial team becomes more dominant. Major craniofacial centers should be encouraged to develop protocols for patient management and to follow a consistent prospective process of collecting data. Meeting these objectives allows us to learn from the past. During the past decade since the introduction of the modern era of craniofacial surgery by Tessier in 1967, craniomaxillofacial surgery has advanced in many ways: through the use of autogenous cranial bone grafts for onlay or interpositional use; refinements in bone stabilization techniques that include miniplate and microplate and screw fixation rather than direct wires; the reintroduction of creative osteotomies for the management of midface deficiency (monobloc and monobloc bipartition); the development of CT scanning techniques applied to the craniofacial skeleton for both qualitative and quantitative measurement; and the presence of the dedicated craniofacial anesthetist whose meticulous monitoring, airway management, and fluid replacement allows for the safe execution of complex total midface osteotomies. The recognition of the need for a staged surgical approach to the correction of the deformities caused by Apert's and Crouzon's syndromes has clarified reconstructive goals and allowed the surgeon to take advantage of differential craniofacial growth patterns similar to those used to help the patient with congenital cleft lip and palate defects. By continuing to define our rationale for the timing of surgical intervention--for example, using cranial vault surgery in infancy to relieve increased intracranial pressure and papilledema; total midface advancement in childhood to further increase intracranial and orbital volume, improve nasal airflow, occlusion, and body image; and orthognathic surgery in adolescence to improve occlusion, speech, and aesthetics--we can avoid unproductive surgery and select the optimal timing for surgical intervention to maximize long-term functional and aesthetic results.

Acrocephalosyndactylia↗

Acne in Apert syndrome.

An acneiform eruption is a well-recognized feature of Apert syndrome. Management is determined by the extent and morphology of the eruption. This article details treatment procedures for acne that closely resembles acne vulgaris.

Acne Vulgaris↗

Apert syndrome.

A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant autosomal disease; and because there were no other sufferer from the family history, the occurrence of this syndrome has been caused by a new mutation. Symptomatic therapy such as the administration of acetazolamide for hydrocephalus and vitamin supplement to improve his general condition, and even physical physiotherapy have been carried out. Genetic counselling to the couple has been provided as well.

Acrocephalosyndactylia↗

[Apert's syndrome with polymetatarsia].

Three cases of acrocephalosyndactyly with duplication of the first toe and presence of six well-individualized metatarsals are reported. This type of polysyndactyly should suggest the diagnosis of Carpenter syndrome, which is inherited on a recessive autosomal basis. However, in the three patients reported here, the facial dysmorphism was distinct from that seen in Carpenter syndrome and the syndactyly was more marked. The correct diagnosis therefore seems to be Apert acrocephalosyndactyly, a disease with dominant transmission. A mutation seems very likely and consequently the risk of recurrence in siblings is probably minimal.

Acrocephalosyndactylia↗

[Genetic syndromes of multiple congenital developmental defects].

Analysis of developmental defects in 615 children who had died in hospitals in Minsk during the 5-year period (1971--1975)showed that in 274 children defects were multiple. This number includes 78 children with chromosomal diseases and 37 children with genic syndromes of multiple congenital malformations (MCM). The total number of genic syndromes of MCM is extremely great, at present over 250 of them are known. Analysis of the available literature and the authors' own findings made it possible to develop criteria of morphological diagnosis of genic syndromes of MCM with due account for different diagnostic significance of various defects. Genealogical studies and estimation of population incidence of individual malformations are also necessary for diagnosis of genic syndromes of MCM and identification of new syndromes. An etiological classification of MCM and that of genic syndromes of MCM are considered on the basis of isolation of similar clinical forms, which are of important for differential diagnosis.

Abnormalities, Multiple↗

[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].

A familial observation of Reinhardt-Pfeiffer type mesomelic chondrodysplasia spanning three generations is reported. This case clearly shows that expression of the disease can vary widely within a given family. One member affected as a fetus had a severe form suggesting Langer mesomelic dwarfism syndrome, whereas his mother was free of clinical symptoms and his maternal aunt had a typical form of Reinhardt-Pfeiffer syndrome. Clinical manifestations in the other affected family members were perfectly consistent with dyschondrosteosis syndrome. The very broad spectrum of clinical patterns in this family suggests that there may be connections between the various types of mesomelic dysplasia. Establishing clear-cut distinctions between these entities, although useful in practice, may not accurately reflect molecular anomalies. Furthermore, the family member affected as a fetus also had Turner syndrome, which may have contributed to the severity of his condition. The possibility of identifying severe mesomelic dysplasias antenatally by ultrasonography should be pointed out.

Acrocephalosyndactylia↗

Genetic and family study of the Apert syndrome.

Of 119 patients with the Apert syndrome, 94 pedigrees are available for study. Selected family histories and recorded events during pregnancy are also reported. The sex ratio is 1:1 (60 males, 59 females). All 94 pedigrees except one (an affected father and daughter) represent sporadic instances. Combining our cases with those available in the literature, only nine familial instances are known to date. The familial cases, the equal number of affected males and females, and the increased paternal age in sporadic cases strongly suggest autosomal dominant inheritance. The rarity of familial instances can be explained by reduced genetic fitness of affected individuals because severe malformations and the presence of mental deficiency, found in many cases, diminish desirability as mates. The variability of the syndrome has been defined mainly on the basis of sporadic cases. High resolution banding was normal in five recently studied cases.

Acrocephalosyndactylia↗

Clinical assessment and multispecialty management of Apert syndrome.

This article has provided an overview of the medical, surgical, and developmental issues that should be considered in all individuals with the Apert syndrome. This is a multiple-malformation syndrome and, as such, health care must involve attention to multiple systems. In addition to a planned strategy for surgical management, family history must be considered and consultations requested with a geneticist, ophthalmologist, child development specialist, and an otorhinolaryngologist in addition to the "team" members described. Potential complications from airway obstruction include obstructive breathing patterns, apnea, and cor pulmonale; central nervous system abnormalities may not be apparent until neurologic sequelae are manifested. The single most important concept of team care rests not with close proximity of multiple specialists but with the ability of the team to communicate and organize effectively a plan of care for families.

Acrocephalosyndactylia↗

Apert syndrome.

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Acrocephalosyndactylia↗

Apert syndrome. Anesthetic management.

Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the airway are carefully considered. More extensive and prolonged craniofacial reconstructive surgeries require more monitoring and include all the problems associated with difficult intubation, hazardous airway management, massive blood loss and fluid shift, and long anesthetic times. After assessment of all these specific needs, the anesthesiologist will be presented with a difficult but not insurmountable risk.

Acrocephalosyndactylia↗

Apert syndrome. Diagnosis and treatment of craniostenosis and intracranial anomalies.

Over the past 15 years, conceptual and technical advances have occurred in the management of the infant with Apert syndrome. There is greater understanding and hence documentation of the neurologic and developmental associations of Apert syndrome. The technical progress is measured in the maturation of former ad hoc, if not random, operative craniectomies, to current deliberate planned strategies with regard to management of hydrocephalus, synostosis, orbital expansion, and forehead advancement. The future will likely bring the prenatal diagnosis of Apert syndrome into even greater focus. That notwithstanding, management techniques are likely to change little in the next decade.

Acrocephalosyndactylia↗