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Judith Franklin

Publications and source records attributed to Judith Franklin.

3 recordsLinked to original sources

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. 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.

Child↗

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.

Abnormalities, Multiple↗