PT  - JOURNAL ARTICLE
AU  - Joana Brandão Silva
AU  - Diana Soares
AU  - Miguel Leão
AU  - Helena Santos
TI  - Mandibulofacial dysostosis with microcephaly: a syndrome to remember
AID  - 10.1136/bcr-2019-229831
DP  - 2019 Aug 01
TA  - BMJ Case Reports
PG  - e229831
VI  - 12
IP  - 8
4099  - http://casereports.bmj.com/content/12/8/e229831.short
4100  - http://casereports.bmj.com/content/12/8/e229831.full
SO  - BMJ Case Reports2019 Aug 01; 12
AB  - Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular–cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.