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Mandibulofacial dysostosis Bauru type syndrome: A new case

✍ Scribed by Zechi-Ceide, Roseli Maria; Guion-Almeida, Maria Leine

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 26 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990910)86:2<199::aid-ajmg24>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

Recently, Marc ¸ano and Richieri-Costa [1998] described a new autosomal dominant mandibulofacial dysostosis in a Brazilian family with five affected individuals, in three generation comprising malar hypoplasia, cleft lip with or without cleft palate, mild upslanting palpebral fissures, and abnormal ears. Here, we report on a girl with mandibulofacial disostosis that resembles the patients described by Marc ¸ano and Richieri-Costa [1998].

ACP (Fig. and) is the second child of young, healthy, nonconsanguineous parents with a normal sister and no similar cases in the family. She was born normally after an uncomplicated pregnancy. Birth weight and length were 2,100 g (<3rd centile) and 46.0 cm (3rd centile), respectively. Neuropsychological development was normal. Evaluation at age 6 7/12 years showed weight of 22 kg (50th centile), height of 118 cm (50th centile), OFC of 50 cm (<50th centile). She had up-slanting palpebral fissures, high nasal bridge, malar hypoplasia, Robin sequence with severe microgna-Fig. 1. Clinical aspects of the patient.

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