ArticleBMJ case reports2019
Mandibulofacial dysostosis with microcephaly: a syndrome to remember.
Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Prenatal Ultrasound and Genetic Diagnosis ofThe application of clinical genetics · 2026Article
- Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).Molecular medicine reports · 2025Review
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.Molecular genetics & genomic medicine · 2024Article
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.Frontiers in pediatrics · 2023Article
- A de novo start-loss inCold Spring Harbor molecular case studies · 2022Article
- A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.Journal of clinical laboratory analysis · 2022Article
- [Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Review
- Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.American journal of medical genetics. Part A · 2021Article
- Novel Splice Site Pathogenic Variant ofDiagnostics (Basel, Switzerland) · 2020Article
- Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.Journal of medicine and lifeArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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