John H. Grant

The multidisciplinary evaluation and management of cleft lip and palate

Cleft lip with or without a cleft palate (CLP) and cleft palate alone (CPA) are common birth defects, with a combined birth prevalence of about 1 to 2/1,000.1 Affected children have a number of medical issues and potential complications, and therefore require a wide variety of healthcare specialists beyond plastic surgeons and dental specialists. For this reason, the best environment in which to deliver this care is a multidisciplinary cleft clinic (MCC) that features a team of healthcare providers, including audiology, pediatric otolaryngology, speech pathology, occupational/feeding therapy, and genetics. In this setting, the many medical issues that these children face are comprehensively addressed in the most convenient manner, as all the specialists can be seen in a single busy day. Furthermore, the referring primary care provider (PCP) will receive a concise letter that documents the team evaluation, including future management plans and recommendations for therapy. Unfortunately, few papers are available in the literature that review the workings of these clinics. In this paper we will provide such an overview, discussing the management issues for children with CLP/CPA, and how these are addressed by members of the MCC.

Clefting, amniotic bands, and polydactyly : A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence

Amniotic band sequence (ABS) is a well‐described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion‐Almieda and Richieri‐Costa [ 2000 ] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS‐like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6.

Pansynostosis: a review

IntroductionAlthough rare, pansynostoses are seen and treated by the craniofacial surgeon. To date, a single source that reviews these more severe forms of craniosynostosis is lacking in the literature.Materials and methodsThe present paper outlines and reviews the associations of both syndromic and nonsyndromic cases, potential mechanisms, and the anatomy involved with such forms of premature fusion of the cranial sutures.ResultsPansynostosis is seen in a myriad of syndromes but can also be identified in nonsyndromic cases. Raised intracranial pressure is a concern in these patients.ConclusionsEarly recognition and treatment of patients with pansynostosis of the cranial sutures is important.

Retrospective review of 99 patients with secondary alveolar cleft repair.

PURPOSE The purpose of the present review was to evaluate the protocol and technique used in a large population of patients with cleft lip and palate when secondary grafting is performed during the early mixed dentition stage, as determined by eruption of the central incisor. In the United States, most investigators have recommended alveolar grafting at the 9- to 11-year age range or before eruption of the permanent canines. MATERIALS AND METHODS An institutional review board-approved chart review of 99 patients undergoing alveolar cleft bone grafting during a 7-year period at a single institution was performed. Data were collected regarding demographics, operative time, length of hospitalization, follow-up time, complications, and additional procedures performed. The cases were divided by patient age into 2 groups: group 1, aged 6 to 8 years (n = 61); and group 2, aged 9 years and older (n = 38). Statistical analysis was performed for various comparisons in the study. RESULTS The average operative time for groups 1 and 2 was 86 and 103 minutes, respectively. The complication rate, length of stay, and follow-up time between the 2 groups was not statistically significant at the P = .05 significance level. CONCLUSIONS We recommend earlier bone grafting at or before the eruption of the central incisor, rather than delaying until the cuspid tooth root is 25% formed. We believe this will provide better bone support for the dentition, a decreased burden of treatment for the patient, and improved quality of life. Performing the procedure at this time can lead to decreased operative times, with comparable postoperative outcomes.

IRF6 mutations in mixed isolated familial clefting.

Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro‐facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits. As lip pits are not present in all cases of VWS, IRF6 mutations can cause a phenotype identical to non‐syndromic clefting. However, recent studies failed to identify IRF6 mutations in sporadic and familial non‐syndromic clefting, concluding that testing for IRF6 was not warranted for sporadic or familial non‐syndromic clefting. Here we report on two families that demonstrate familial mixed clefting in which mutations in IRF6 were identified, suggesting that IRF6 testing does have a role in familial, non‐syndromic OFC.

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.

Familial Transmission of Oculoauriculovertebral Spectrum (Goldenhar Syndrome) Is Not Due to Mutations in Either EYA1 or SALL1 Kara Goodin, Sandra Prucka, Audie L. Woolley, Juergen Kohlhase, Richard J.H. Smith, John Grant, and Nathaniel H. Robin* Department of Genetics, University of Alabama, Birmingham, Alabama Department of Pediatrics, University of Alabama, Birmingham, Alabama University of Freiburg, Freiburg, Germany Department of Otolaryngology, University of Iowa, Iowa City, Iowa Department of Surgery, University of Alabama, Birmingham, Alabama

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Blepharocheilodontic (BCD) syndrome is a rare autosomal‐dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate anus (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392–394; Gorlin et al. (1996); Am J Med Genet 65:109–112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266–270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.

IRF6 Sequencing in Interrupted Clefting.

In a retrospective review of patients seen at the University of Alabama at Birmingham Cleft and Craniofacial Center, four patients with rare interrupted clefting were identified who had undergone genetic testing. Each of these patients had a typical cleft lip, with intact hard palate and cleft of the soft palate. Given this picture of mixed clefting, IRF6 sequencing was done and was negative for mutations in all four patients. As genetic testing for single-gene mutations and exome sequencing become clinically available, it may be possible to identify novel mutations responsible for this previously unreported type of interrupted clefting.

Deep dopamine extravasation injury: a case report

We report the case of a 3-month-old girl with Downs syndrome, who sustained a deep and massive extravasation of dopamine, resulting in segmented, full-thickness skin necrosis and transient brachial plexus palsy of her left upper extremity. The patient was managed conservatively, including wound care, de-bridement of necrotic tissue, secondary wound healing and intensive physical therapy. The patient showed a satisfactory outcome with complete secondary closure of her wounds and full brachial plexus recovery after 1 year of follow-up. The mechanism of action of dopamine in the deep soft tissue, the difficulties of an adequate diagnosis of a deep dopamine extravasation and alternative treatments are presented in this article.

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

Abstract Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth. Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management.