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PubMed · 7038589

Form, function, growth, and craniofacial surgery.

Abstract

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.

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BibTeXRIS

H Aduss. 1981. Form, function, growth, and craniofacial surgery.. https://pubmed.ncbi.nlm.nih.gov/7038589/

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Pfeiffer syndrome.

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

Acrocephalosyndactylia↗

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Acrocephalosyndactylia↗