Monodactyly in a patient with CHARGE syndrome: An additional case report von Serigatto, Henrique Regonaschi, Zechi‐Ceide, Roseli Maria, Parizotto, Isabella, Kokitsu‐Nakata, Nancy Mizue

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Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome von Kokitsu‐Nakata, Nancy Mizue, Segarra, Vinicius Contrucci Dantas, Tonello, Cristiano, Brandão, Michele Madeira, Alonso, Nivaldo, Zechi‐Ceide, Roseli Maria

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Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review von Serigatto, Henrique Regonaschi, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Tonello, Cristiano, Moura, Priscila Padilha, Peixoto, Adriano Porto, Gomes, Luiz Paulo, Zechi-Ceide, Roseli Maria

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Identification of a de novo PUF60 variant associated with craniofacial microsomia von Ogawa, Takuya, Xue, Jingyi, Guo, Long, Inoue‐Arai, Maristela Sayuri, Vendramini‐Pittoli, Siulan, Zechi‐Ceide, Roseli Maria, Candido‐Souza, Rosana Maria, Tonello, Cristiano, Brandão, Michele Madeira, Ozawa, Terumi Okada, Peixoto, Adriano Porto, Ruiz, Daniela Maria Cury Ferreira, Nakashima, Tomoki, Ikegawa, Shiro, Moriyama, Keiji, Kokitsu‐Nakata, Nancy Mizue

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome von Gordon, Christopher T., Cunniff, Christopher M., Green, Glenn E., Zechi-Ceide, Roseli Maria, Johnson, Jason M., Henderson, Alex, Petit, Florence, Kokitsu-Nakata, Nancy Mizue, Guion-Almeida, Maria Leine, Munnich, Arnold, Cunningham, Michael L., Lyonnet, Stanislas, Amiel, Jeanne

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Auriculo-condylar syndrome. Confronting a diagnostic challenge von Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Vendramini-Pittoli, Siulan, Romanelli Tavares, Vanessa Luiza, Passos-Bueno, Maria Rita, Guion-Almeida, Maria Leine

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears von Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu, Thierry, Nitschké, Patrick, Lindholm, Pernille, Pellerin, Philippe, Guion-Almeida, Maria Leine, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Munnich, Arnold, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne

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Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrom... von Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Jehee, Fernanda Sarquis, Rocha, Katia, Passos‐Bueno, Maria Rita Santos

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A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sist... von Zechi-Ceide, Roseli Maria, Moura, Priscila Padilha, Raskin, Salmo, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine

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Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases von Favaro, Francine Pinheiro, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Maximino, Luciana P., Antunes, Luis Fernando B. B., Richieri-Costa, Antonio, Guion-Almeida, Maria Leine

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Laryngeal malformation in Richieri‐Costa Pereira syndrome: New findings von Miguel, Haline Coracine, Carneiro, Christiano Giácomo, Tabith, Alfredo, Zechi‐Ceide, Roseli Maria, Genaro, Katia Flores

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Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 von Zechi‐Ceide, Roseli Maria, Rodrigues, Melina Guerreiro, Jehee, Fernanda Sarquis, Kokitsu‐Nakata, Nancy Mizue, Passos‐Bueno, Maria Rita, Guion‐Almeida, Maria Leine

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Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion von Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio, Jehee, Fernanda Sarquis, Passos‐Bueno, Maria Rita Santos, Zechi‐Ceide, Roseli Maria

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Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked sy... von Guion‐Almeida, Maria Leine, Vendramini‐Pittoli, Siulan, Passos‐Bueno, Maria Rita Santos, Zechi‐Ceide, Roseli Maria

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Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes von Zechi‐Ceide, Roseli Maria, Ribeiro, Lucilene Arilho, Raskin, Salmo, Bertolacini, Claudia Danielli Pereira, Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio

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Cerebro-oculo-nasal syndrome: 13 new Brazilian cases von Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Richieri-Costa, Antonio

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Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union von Zechi‐Ceide, Roseli Maria, Guion‐Almeida, Maria Leine, Zanchetta, Sthella, Richieri‐Costa, Antonio

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Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence von Kato, Renata Mayumi, Moura, Priscila Padilha, Zechi-Ceide, Roseli Maria, Tonello, Cristiano, Peixoto, Adriano Porto, Garib, Daniela

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Missense variant Met119Val in ACTB in a patient with Baraitser-Winter syndrome type 1 and mild intellectual disability von Zechi-Ceide, Roseli Maria, Serigatto, Henrique Regonaschi, Galvanin, Ana Laura, Rafacho, Marina Bigeli, Kokitsu-Nakata, Nancy Mizue, Guion-Almeida, Maria Leine, DiDonato, Nataliya

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