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Vieira T.P.,University of Campinas | Monteiro F.P.,University of Campinas | Sgardioli I.C.,University of Campinas | Souza J.,Assistance Center for Cleft Lip and Palate | And 7 more authors.
Cleft Palate-Craniofacial Journal | Year: 2015

Objectives: The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion. Design: Descriptive cohort. Patients: One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included. Methods: All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol. The 22q11.2 deletion screening was performed with fluorescence in situ hybridization using the TUPLE1 probe and multiplex ligation-dependent probe amplification using the P250-A1 kit. Results: The 22q11.2 deletion was detected in 35 patients, in whom the most frequent clinical features were congenital heart disease (15/30-50%), developmental delay (19/35-54%), speech delay (20/35-57%), learning disabilities (27/35-77%), immunologic alterations (18/29-62%). In addition, the most common facial dysmorphisms in this group were long face (27/35-77%), typical nose (24/35-69%), and hooded eyelids (19/35-54%). Comparing features in patients with or without the deletion revealed significant differences (positively correlated with the deletion) for speech delay, learning disabilities, conductive hearing loss, number of dysmorphisms, long face, and hooded eyelids. Cleft lip and palate was negatively correlated with the deletion. Conclusions: The presence of speech delay, learning disabilities, conductive hearing loss, long face, and hooded eyelids should reinforce the suspicion of 22q11.2 DS in patients with palatal abnormalities and would help professionals direct clinical follow-up of these patients. © 2015 American Cleft Palate-Craniofacial Association.

Molck M.C.,University of Campinas | Vieira T.P.,University of Campinas | Sgardioli I.C.,University of Campinas | Simioni M.,University of Campinas | And 4 more authors.
European Journal of Medical Genetics | Year: 2013

The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number abnormalities overlapping or not with the common ~3Mb deletion. They were investigated by G-banding karyotype, Multiplex-ligation dependent probe amplification (MLPA) and array Genomic Hibridization (aGH). Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. Atypical chromosomal abnormalities were detected: 3.6Mb deletion at 22q11.21-q11.23 between LCRs B-F in patient 1 and approximately 1.5Mb deletion at 22q11.21-q11.22 between LCRs D-E in patients 2 and 3. The breakpoints detected in patient 1 have not been previously described. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 region and corroborates the idea that genetic modifiers contribute to the phenotypic variability observed in proximal and distal 22q11.2 deletion syndromes. © 2013 Elsevier Masson SAS.

Buonocore S.,Yale University | Broer P.N.,Yale University | Walker M.E.,Yale University | Da Silva Freitas R.,Federal University of Parana | And 3 more authors.
Annals of Plastic Surgery | Year: 2014

Background: Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct phenotypes. We examine phenotypic differences in macrostomia patients, to further elucidate the etiopathogenesis. Materials and Methods: We performed a retrospective review of macrostomia patients evaluated during a 10-year period. Patient demographics and clinical features are reported. Results: We identified 25 macrostomia patients (13M/12F). Right-sided macrostomia occurred in 15, left-sided macrostomia occurred in 6, and bilateral macrostomia occurred in 4 patients. Of the bilateral cases, 100% existed in isolation of craniofacial microsomia (CFM) or other craniofacial abnormalities. Twelve patients presented with macrostomia in isolation of CFM; in this subgroup, the male-to-female ratio was 1:1. Bilateral macrostomia was present in 33% of patients. Unilateral macrostomia occurred more often on the right (5:2). Phenotypes included simple unilateral or bilateral macrostomia (67%), macrostomia associated with severe diastasis of the cheek musculature (8%), macrostomia associated with lateral facial clefts (17%), and diastasis of cheek musculature without significant macrostomia (8%). Conclusions: Macrostomia seen in isolation of CFM presents in phenotypically distinct forms. It is unlikely that a single mechanism is responsible for this range of phenotypes.We believe that both intrauterine trauma and failure of fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 function are responsible. Additionally, diastasis of facial musculature may result from delayed fusion and subsequent decreased mesodermal penetration of the mandibular and maxillary processes. Copyright © 2012 by Lippincott Williams & Wilkins.

Laverde B.L.B.,Federal University of Parana | Da Silva Freitas R.,Federal University of Parana | Nasser I.J.G.,Assistance Center for Cleft Lip and Palate
Journal of Craniofacial Surgery | Year: 2016

Introduction: Unilateral cleft lip (UCL) patients have lip and nose deformities that must be addressed during lip repair. Currently, devices to achieve lip and nose improvements have been developed. The most researched presurgical molding device is the nasoalveolar molding (NAM), which has shown favorable results. However, clinical observation shows that unilateral cleft patients, even without molding devices, achieve spontaneous improvements. The aim of this study is to compare morphological and symmetry changes in nose and lip, between patients less than 30-day old and those submitted to cheiloplasty, at 6 months of age. Materials and Methods: A total of 27 UCL patients with 2 photographs were selected. The pictures were taken from frontal view and nasal base view at 2 distinct moments: before 30 days of life (t1) and at 6 months of age, during cheiloplasty surgery (T2). Images were analyzed with indirect measurement to assess lip and nose dimensions and nasal symmetry. ImageJ software was used to perform the analyses. Results: A total of 20 patients (P<0.05) had an average cleft width reduction of 15% [standard deviation (SD)±11%]. A 55% average increase (SD±29%) was observed in nostril height of cleft side in 16 of patients (P<0.05). There was an reduction in facial asymmetry of nostril width (P<0.05), from 95% (SD±90%) (t1) to 59% (SD±50) (T2). Also, nasal base width asymmetry (P<0.05) was decreased from 64% (SD±66%) (t1) to 40% (SD±29%) (T2). Conclusion: Facial growth causes a natural improvement on cleft morphological changes and nasal symmetry. Copyright © 2015 by Mutaz B. Habal, MD.

Da Silva Freitas R.,Federal University of Parana | Da Silva Freitas R.,Assistance Center for Cleft Lip and Palate | Alonso N.,University of Sao Paulo | Busato L.,Assistance Center for Cleft Lip and Palate | And 4 more authors.
Journal of Craniofacial Surgery | Year: 2010

INTRODUCTION: Number 3 cleft or oral-nasal-ocular cleft is a well-known entity that was described by Morian over a century ago. This malformation is a paranasal-medial orbitomaxillary cleft running across the lacrimal segment of the lower eyelid and over the lacrimal groove. The Tessier number 3 naso-ocular cleft represents one of the most difficult and challenging malformations to correct for the reconstructive surgeon. We have conducted a retrospective analysis of our series consisting of 21 cases. OBJECTIVE: The objective was to review the functional outcome and aesthetic results of the different techniques applied for each case. MATERIALS AND METHODS: From 1997 to 2007, 21 patients with a Tessier number 3 cleft were treated in our craniofacial units. The clinical findings, tomographic studies, and surgical procedures were reviewed and analyzed. We have discussed our protocol of the treatment. RESULTS: We have treated facial malformation in 2 craniofacial centers. Fourteen patients were evaluated in the first year of their life, with an average age at presentation of 3 years. Twelve patients were female, and 9 were male; 6 patients had amniotic bands in limbs, 5 patients had an association with Tessier number 11 cleft, 3 patients with number 9 cleft, and 1 with number 7 cleft. Related to cleft lip, 10 patients had bilateral cleft lip, and 8 patients had unilateral cleft lip. Three patients did not have any involvement of the upper lip. The alar base was deviated upward in 19 patients, 11 cases had severe anatomic alteration with the lateral border of the ala above the medial canthus, and 8 cases had a mild dislocation. Nine cases of lacrimal duct obstruction and 8 cases of lacrimal duct extrophy were identified. Twelve patients had a lower eyelid coloboma of varying grades, and there were 2 cases of microblepharia. Aiming the soft tissue reconstruction, eyelid, nose, and upper lip were evaluated regarding their position, absence of tissue, and position of medial canthus and ala. Twelve of our patients underwent correction in the same moment, their medial canthus rotated upward and the ala downward, using the contralateral side as the reference. The lip was treated using a Millard-like technique. Neo-conjunctivorhinostomy was performed in the same moment in 2 patients or later in 1 case. Four patients had plagiocephaly due to the cranial involvement, and they were submitted to cranioplasty. Three had neurosurgical approach and advancement of the frontal bandeau. One adult patient received an acrylic plate to reshape the frontal area. CONCLUSIONS: Tessier number 3 cleft is one of the most difficult and challenging malformations to correct for the reconstructive surgeon. Besides the difficulties of its treatment, patients with Tessier number 3 cleft may achieve good results when the team has good skills. Copyright © 2010 by Mutaz B. Habal.

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