Otolaryngologic manifestations of Kabuki syndrome.

A review of clinical findings in 12 children with Kabuki syndrome revealed a high prevalence of otolaryngologic problems, including dysmorphic pinnae (100%), ear disease (92%), hearing loss (82%) and airway problems (58%). The high prevalence of ear disease and hearing loss was not explained solely on the basis of prevalence of cleft palate. Patients with Kabuki syndrome require the diagnostic and treatment expertise of otolaryngologists on an ongoing basis.

The relationship between timing of cleft palate surgery and speech outcome: what have we learned, and where do we stand in the 1990s?

The optimum age for surgical closure of cleft palate remains an unresolved question, despite the fact that many clinicians have studied the issue since the 1930s. This article reviews the debate as it has taken shape over the last several decades, with a prospective view toward how standards of practice may evolve in the foreseeable future.

Speech outcomes in adolescents with cleft lip and palate.

Speech results were surveyed in 110 adolescent patients with clefts: 53 with unilateral cleft lip and palate, 46 with bilateral cleft lip and palate, and 11 with isolated clefts of the secondary palate. Only 12 of the 110 teenagers had received consistent team care from infancy. The early physical management was impossible to reliably determine in the remaining 98. Speech was normal in 22.7%, characterized by a variety of problems in approximately 66%, and a complete habilitative failure in 10.9%. Cleft palate and craniofacial teams who first encounter incompletely managed cases in the teenage years are faced with complex and interrelated challenges of providing appropriate physical management, speech habilitation, and psychosocial support, including determination of that approach which will be most likely to assure future compliance with treatment recommendations to each child and family.

Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome).

An abnormal cranial base could exert a negative influence on neurocranial development. Because patients with mandibulofacial dysostosis (MFD) present an abnormal cranial base (basilar kyphosis), a retrospective mixed longitudinal cephalometric study was designed with the purpose of ascertaining the presence of abnormalities of neurocranial form and size in this population of patients. The lateral and frontal cephalometric radiographs from 33 patients with MFD (15 males, 18 females) ranging in age from 3 years 4 months to 19 years 6 months were used. For comparison cephalometric radiographs from two samples were obtained: one from 24 children (12 male, 12 female) with repaired cleft lip only, and the other from 41 normal young adults (21 male, 21 female). All films were traced, and 9 linear, 1 angular, and 3 derived measurements were obtained from the neurocranium and cranial base. Differences between groups according to age and sex were tested with Student's t-test at the 5% level of significance. A correlation analysis between the cranial base angle and selected neurocranial variables was also conducted. The results showed that although the neurocranium in MFD had normal dimensions in length, height, and volume, it had an abnormal shape. The neurocranium had reduced length anteriorly and increased length posteriorly. The upper cranial height was decreased and the lower cranial height was increased. The difference in shape was evident during childhood and remained in adulthood. The dimensions of the anterior and posterior cranial base, as well as the cranial base angle, were smaller in MFD. A significant negative correlation was found between the cranial base angle and the lower cranial height in MFD.

Phoneme-specific nasal emission in children with and without physical anomalies of the velopharyngeal mechanism.

Phoneme-specific nasal emission was identified in 36 children ranging in age from 3 years, 3 months to 16 years, 5 months; 19 children had no physical anomalies of the orofacial mechanism, whereas 17 had findings ranging from minor to severe. Five patterns of phoneme-specific nasal emission were exhibited by 2 or more children. An additional eight patterns were exhibited by 1 child each. Sibilants were clearly the most frequently affected phonemes. There was no significant correlation between the number of phonemes affected by nasal emission and the number of phonologic processes exhibited by the children in either subject group. The two subject groups were more alike than different in the speech behaviors observed, underscoring a fundamental homogeneity among speakers who exhibit phoneme-specific nasal emission.

Long-term follow-up on a case of untreated trigonocephaly.

Trigonocephaly is typically treated during the second 3 months of life by metopic suture synostectomy, orbital rim advancement, and cranioplasty. The results are generally very pleasing in nonsyndromic patients. We have not, however, seen adults with residual deformity who preceded the present basic approach to treatment first described by Hoffman and Mohr (1976). Dominguez et al (1981) described 15 individuals who improved without treatment. The question that arises is whether we are treating this congenital problem unnecessarily, particularly in nonsyndromic patients. We present a 38-year-old untreated woman who still has residual signs of the deformity seen in early childhood photographs.

Longitudinal changes in cranial base angulation in mandibulofacial dysostosis.

Longitudinal measures of cranial base angulation (nasion-sella-basion angle; N-S-Ba) were obtained in 24 patients with mandibulofacial dysostosis (MFD), with records available over time spans ranging from 2 years to 29 years. Initial measurements, obtained at ages ranging from 1 month to 13 years, 6 months, indicated basilar kyphosis (N-S-Ba less than 120 degrees) in five patients. Twenty-one patients showed increasing flexure of the cranial base angle (CBA) over time, eight to such a degree that their initially normal CBAs eventually fell into the kyphotic range. At the time of the final available records (age range 4 years, 0 months to 29 years, 2 months), a total of 54 percent of patients thus fell into the kyphotic range. These results point to the time-dependent nature of the appearance of abnormal CB angulation in some patients. In addition, there was a predominance of males in those patients showing significant change in cranial base angulation over time.

Velopharyngeal inadequacy in the absence of overt cleft palate.

Velopharyngeal inadequacy in the absence of overt cleft palate may be due to any one, of any combination, of the following: intraorally visible stigmata associated with submucous defects (any combination of bifid uvula, muscular diastasis of the soft palate, bony defect of the hard palate); "occult" anatomical defects of the levator palatini or musculus uvulae, detectable only by nasopharyngoscopy or by operative dissection; anatomic disproportion between the size of the nasopharynx and the length of the hard and/or soft palate; mechanical interference with motion of the velopharyngeal system occurring as a result of scarring or contracture, and possibly as a result of interposition of the upper poles of the faucial tonsils between the velum and the posterior pharyngeal wall; a wide variety of neuromotor deficits, either congenital or acquired, causing reduced and/or incoordinated movement of the velopharyngeal musculature; a learning error of unknown origin which results in velopharyngeal inadequacy only on specific phonemes with all other pressure consonants emitted orally. Submucous defects of the secondary palate do not necessarily produce velopharyngeal inadequacy. Thus, our estimates of both the incidence of submucous defects and of the frequency of genes for clefting in any given population are undoubtedly low. Finally, "stress velopharyngeal inadequacy" in wind instrument players has been linked to a variety of anatomic findings and is not necessarily accompanied by velopharyngeal inadequacy in speech. This paper will review the historic aspects of velopharyngeal inadequacy and will discuss and analyze the causes outlined above.

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.

Abnormal laryngeal vocal quality in ectodermal dysplasia.

Breathy vocal quality was verified in five of nine patients with the ectrodactyly--ectodermal dysplasia--cleft palate syndrome, nine of 15 patients with either suspected or confirmed anhidrotic ectodermal dysplasia (one case of partial expression), and one of two siblings with the Rapp-Hodgkin form of ectodermal dysplasia. Indirect laryngoscopy in eight of the breathy patients failed to show phonatory glottal chinks or any overt laryngeal pathologic conditions, but it did indicate absence of a normal mucosal covering of the folds. Limited spectrographic studies disclosed widely spaced voicing striations and also suggested prolonged voice onset times. Patients who exhibit breathy vocal quality in the presence of one of these ectodermal dysplasias should be counseled with regard to the advisability of longitudinal care and the avoidance of habitual use of increased vocal effort level.