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PubMed1981

Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon.

Results of this cephalometric study of the dimensions of the nasopharynx in the syndromes of Apert and Crouzon concur with information previously reported both from this and other centers, enlarging the data base to direct attention to changes in these dimensions with growth of the patient. Alterations of the nasopharyngeal architecture in these syndromes include reduction in pharyngeal height, width, and depth; increased length and thickness of the velum; decreased length of the hard palate; and marked reduction in the posterior cranial base with somewhat less remarkable changes in the anterior cranial base. Increased basilar kyphosis evident in some patients contributes to the reduction in nasopharyngeal space. Most of these deviations are present early in life and tend to become worse as the patient matures. The combination of reduced nasopharyngeal dimensions and reduced patency of the posterior nasal choanae poses the threat of respiratory embarrassment and cor pulmonale, particularly in the young child.

Acrocephalosyndactylia↗
PubMed1981

Form, function, growth, and craniofacial surgery.

The introduction of craniofacial surgery in the early 1970's provided new treatment opportunities for patients previously ineligible for care and increased the number of patients presenting to multidisciplinary teams and private practitioners. Otolaryngologists together with other medical and paramedical professionals began to see patients whose overall phenotype was relatively unfamiliar. Complex craniofacial malformations raised questions concerned with the severity of the malformation process, the effect of growth, and the effect of surgery. For example, how does the anomalous craniofacial skeleton grow? Does the deformity become worse with time? Does it get better? Or does it stay the same? Additionally, how does surgery that is designed to restore form and function affect growth of the craniofacial complex? To answer these questions, this article examines the form, function, and pattern of craniofacial growth in four categories of malformations: cleft lip and palate, hemifacial microsomia, mandibulofacial dysostosis, and two of the craniofacial synostoses, the Apert and Crouzon syndromes. Each of these malformations is amenable to surgery. The timing and effect of surgery on growth are critical to successful habilitation and are discussed as part of the natural history of those anomalies.

Acrocephalosyndactylia↗
PubMed1982

Acrocephalosyndactyly with hydrocephalus and dextrocardia in a Nigerian child.

A rare case of dextrocardia and hydrocephalus in a patient with acrocephalosyndactyly is reported. In the patient presented here, barium meal studies showed the gastrointestinal tract to be in normal position. There was no evidence of cardiac disease but the patient showed some neurological retardation at age nine months.

Abnormalities, Multiple↗
PubMedDate not supplied

[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].

Part I - A case of acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2-year-old male child. This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence. Our patient, instead, shows a middle degree of psychomotor delay. The family pedigree confirms an autosomal dominant inheritance mode. Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and acrocephalosyndactyly syndromes is discussed. Neurosurgical assessment is mandatory in order to avoid cerebral and ocular damage due to chronically increased intracranial pressure. Part II - The Authors present some concepts on the surgical treatment of the craniofacial stenosis. A great importance is given to an early diagnosis and surgical treatment: to make this possible it is necessary to have some Hospital Centers really very specialized. The treatment of a child affected by Syndrome of Pfeiffer is described, giving more evidence to the operative technique and to its reasons.

Acrocephalosyndactylia↗
PubMed1981

Deformities of the great toe in Apert's syndrome.

Complex syndactyly of the hands and feet is a major deformity seen in children with Apert's syndrome. Also observed in the three patients presented in this paper was severe hallux valgus, which caused significant shoeing difficulties in two patients, for whom surgical correction was necessary. The two operative plans were based on the different underlying osseous abnormalities: (1) removal of the great toe with transposition of the second toe; (2) resection of the second ray with realignment of the great toe. Both procedures were successful from a functional and aesthetic viewpoint. When confronted with a child with Apert's syndrome who is having shoeing difficulty, assessment of the underlying osseous pathology is a mandatory step in the preoperative planning of surgical intervention.

Acrocephalosyndactylia↗
PubMed1980

Coronal craniostenosis: fetal head constraint as one possible cause.

A retrospective study of 11 instances of idiopathic coronal craniostenosis in otherwise normal children revealed that early lightening, prolonged moderate to severe pelvic discomfort late in pregnancy, and/or an abnormal fetal lie were unusual gestational features indicative of intrauterine constraint for eight of these patients. The impression of unusual constraint in utero was further implied by finding associated positional foot deformities in four of these latter eight children. We hypothesize that prolonged constraint of the fetal head may limit anteroposterior growth stretch at the coronal suture and thereby predispose toward early sutural fusion.

Acrocephalosyndactylia↗