ABSTRACT
Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.
Subject(s)
Agenesis of Corpus Callosum/diagnosis , Cleft Lip/diagnosis , Coloboma/diagnosis , Lipoma/diagnosis , Nasal Polyps/diagnosis , Skin Diseases/diagnosis , Adolescent , Agenesis of Corpus Callosum/genetics , Agenesis of Corpus Callosum/pathology , Child , Child, Preschool , Cleft Lip/genetics , Cleft Lip/pathology , Coloboma/genetics , Coloboma/pathology , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Lipoma/genetics , Lipoma/pathology , Magnetic Resonance Imaging , Male , Nasal Polyps/genetics , Nasal Polyps/pathology , Phenotype , Skin Diseases/genetics , Skin Diseases/pathology , Young AdultABSTRACT
Nasoalveolar moulding is a presurgical orthopaedic technique used to improve the outcomes of bilateral clefts. However, the lack of a validated scale tailored to bilateral clefts makes it difficult to quantify the merits of nasoalveolar moulding and compare it to other techniques. In this study, a recently published anatomical subunit scale was used to evaluate and compare the early effects of nasoalveolar moulding. Two groups of similarly treated bilateral cleft patients were included: one in which patients underwent presurgical nasoalveolar moulding and one in which they did not. The nasolabial aesthetics were evaluated on two-dimensional photographs at 6 months post cheiloplasty. Cupid's bow, vermilion symmetry, vermilion notching, premaxillary show at rest, scar aesthetics, columella height, columella height, and bialar width were all significantly better in the nasoalveolar moulding group. Using the new scale, it was found that nasolabial aesthetics at 6 months post cheiloplasty were significantly better in patients who had undergone nasoalveolar moulding in infancy.
Subject(s)
Alveolar Process/abnormalities , Cleft Lip/therapy , Cleft Palate/therapy , Esthetics , Orthopedic Procedures , Cleft Lip/surgery , Cleft Palate/surgery , Female , Humans , Infant , Male , Photography , Preoperative Care , Retrospective Studies , Treatment OutcomeABSTRACT
As there is currently no internationally accepted outcome measurement tool available for complete bilateral cleft lip and palate (CBCLP), the goal of this prospective study was to develop a numerical evaluation scale that allows reliable scoring of this cleft deformity. Our cohort comprised 121 Indian subjects with CBCLP who underwent surgical repair (mean age at time of surgery 6.53 months) using a modified Millard technique. A panel of three professionals evaluated each subject's outcome of bilateral cleft lip repair 6 months postoperatively on two-dimensional (2D) full-face photographs in the frontal view and worm's eye view. A simple two-point rating system was applied to separately analyse a total of 12 components of lip, nose, and scar. The results and mean scores for the analysed anatomical areas were 2.2±1.01 (max=3) for nose, 5.4±1.54 (max=8) for lip, and 1.9±1.3 (max=3) for scar, with a total score 7.7±2.21 (max=12) indicating a good surgical outcome. The inter-examiner ICC for nose, lip, scar, and total score was calculated at 0.836, 0.889, 0.723, and 0.927 respectively and indicated a strong level of repeatability and reliability that was highly significant (P<0.001). In conclusion, we were able to develop and test a scoring system for measuring outcomes in CBCLP that warrants simplicity of use, reliability and reproducibility.
