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Mandibulofacial dysostosis with microcephaly: a syndrome to remember

• Authors : Miguel Leão; Diana Soares; Joana Brandão Silva

Subjects: Male; 0301 basic medicine; Microcephaly

• Source: BMJ Case Rep

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Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts theHOXD gene cluster

• Authors : Steven B. Bleyl; Arthur R. Brothman; David A. Stevenson

Subjects: Hearing loss; Chromosomal translocation; Biology

• Source: American Journal of Medical Genetics Part A. :1053-1059

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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 syndrome?

• Authors : Maria Leine Guion-Almeida; Fernanda Sarquis Jehee; Roseli Maria Zechi-Ceide

Subjects: Hearing loss; Eye disease; ALOPECIA

• Source: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)Universidade de São Paulo (USP)instacron:USP

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[Mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome: apropos of 2 cases]

• Authors : P, Donadio; G, Bolla; G, Donadio

Subjects: Male; Infant, Newborn; Humans

• Source: La Pediatria medica e chirurgica : Medical and surgical pediatrics. 11(3)

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Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

• Authors : Bingbo Zhou; Xuan Feng; Zongfu Cao

Subjects: Male; 0301 basic medicine; Proband

• Source: Journal of Clinical Laboratory Analysis

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First and second branchial arch syndromes: multimodality approach

• Authors : Bertrand Jaques; Leonor Alamo Maestre; T. Laswed

Subjects: Panoramic radiograph; Adolescent; Cephalometry

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Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

• Authors : Tanja Karen; Nadja Bogdanova; Annette Linz

Subjects: Genetic Markers; Male; Pediatrics

• Source: European Journal of Pediatrics. 171:1611-1618

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The Airway Approach to a Neonate with Treacher Collins Syndrome. Case Report

• Authors : H. Trindade; R. Marques-Pires

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

• Source: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informaçãoinstacron:RCAAP

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Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome

• Authors : Xiaohong Li; Yan Zhao; Bo Gao

Subjects: Adult; Male; China

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Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study

• Authors : Juntaro Nishio; Masashi Fujii; Keiko Kinouchi

Subjects: Male; medicine.medical_specialty; Hearing Loss, Sensorineural

• Source: Pediatric Anesthesia. 25:829-833

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