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Mandibulofacial dysostosis with microcephaly: a syndrome to remember
  1. Joana Brandão Silva1,
  2. Diana Soares1,
  3. Miguel Leão2 and
  4. Helena Santos3
  1. 1 Pediatrics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho EPE, Vila Nova de Gaia, Portugal
  2. 2 Paediatric Neurology Unit, Paediatrics Department, Centro Hospitalar São João, Porto, Portugal
  3. 3 Infancy and Adolescent Neurosciences Unit, Paediatrics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho EPE, Vila Nova de Gaia, Portugal
  1. Correspondence to Dr Diana Soares, dianarsoares{at}


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.

  • genetic screening/counselling
  • congenital disorders
  • failure to thrive
  • neonatal and paediatric intensive care
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  • Contributors JBS initiated this paper, wrote the clinical report and performed the bibliographic revision. DS collaborated in writing the clinical report. ML reviewed the manuscript. HS supervised all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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