Anterior fontanelle morphology in unilateral coronal synostosis: a clear clinical (nonradiographic) sign for the diagnosis of frontal plagiocephaly.

BACKGROUND: A review of patients with unilateral coronal synostosis treated at the Royal Children's Hospital was performed to explore the hypothesis that the clinically palpated shape of the anterior fontanelle in nonsyndromic unilateral coronal synostosis is triangular rather than the normal diamond shape. METHODS: Three-dimensional computed tomographic scans were reviewed to assess the morphology of the anterior fontanelle. It is to be noted that these methods are purely for the purposes of describing the sign, and a three-dimensional computed tomographic scan is not required to elicit this clinical sign. RESULTS: Twenty-eight patient records were identified, of which 18 had had three-dimensional computed tomographic scans. In eight of these, the anterior fontanelle was closed at the time of computed tomographic scanning, and in 10 it was open. Of the open fontanelles, all were triangular, supporting the hypothesis. CONCLUSIONS: The shape of the fontanelle is an additional useful clinical sign with which to discriminate between synostotic plagiocephaly (triangular fontanelle) and deformational plagiocephaly (diamond-shaped fontanelle), along with those previously described by Mulliken and Huang. An algorithm is presented using these clinical indicators to both guide and minimize the use of radiology investigations.

Long-term outcomes of surgical tongue reduction in Beckwith-Wiedemann syndrome.

BACKGROUND: Surgical tongue reduction is often performed in Beckwith-Wiedemann syndrome when macroglossia results in abnormal tongue function or cosmesis; however, no published studies have examined the long-term outcomes of this procedure. METHODS: Patients older than 18 years with Beckwith-Wiedemann syndrome who had previously undergone surgical tongue reduction at the Royal Children's Hospital in Melbourne underwent assessment of speech and tongue function, mobility, sensation, and cosmesis. These assessments were performed by questionnaire on 11 subjects and by formal medical and speech pathology review in four of these 11 subjects. RESULTS: Eleven patients aged 19 to 31 years completed responses by means of questionnaire. The most common self-reported abnormalities were continued disproportionate tongue bulk (91 percent), abnormal tongue appearance (82 percent), specific speech sound errors (73 percent), and a short tongue tip (55 percent). Formal assessments investigated speech, swallowing, taste, and tongue mobility in four quite different subjects. One of these four subjects had no detectable deficits in tongue function. All 11 patients were of normal intelligence and did not report significant difficulties in their day-to-day life that were attributable to their macroglossia or tongue reduction surgery. CONCLUSIONS: Pediatric patients with symptomatic macroglossia requiring surgical tongue reduction may not achieve complete normality in tongue function and appearance in adulthood. It is important that surgical tongue reduction addresses the global nature of the macroglossia and aims to retain a tapered tongue tip with length sufficient to permit normal tongue movements.

Isolated and syndromic syngnathism: management, implications, and genetics.

We present 2 contrasting cases of congenital interalveolar synechiae. The first occurred in the setting of Van der Woude syndrome and was associated with a cleft palate. In the second case, it was an isolated abnormality and there was no contributory family history or syndromic associations. We review the literature on interalveolar synechiae and discuss its management, implications, and genetics. Interalveolar synechiae is a condition with an excellent prognosis; its presence necessitates careful examination for associated abnormalities and syndromes.