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Case Reports: Rare disease
Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
  1. Ernestina Mwipopo1,
  2. Mariam Mngoya Massomo2,
  3. Robert Moshiro3 and
  4. Karim Premji Manji1
  1. 1 Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania
  2. 2 Pediatrics and Child Health Neonatal Unit, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania
  3. 3 Pediatrics, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania
  1. Correspondence to Professor Karim Premji Manji; kpmanji{at}gmail.com

Abstract

A male baby with bilateral cryptophthalmos without eyebrows, distorted anterior hairline, bifid nasal tip, low-set ears, hypertelorism and low anorectal anomaly who was phenotypically diagnosed with Manitoba oculo-tricho-anal syndrome (mutation in FREM1 gene) had an overlapping genotypic diagnosis of autosomal recessive Fraser syndrome 2 because of the presence of a closely related mutation in FREM2. This heterozygous variant was likely to be sporadic. Another mutation was identified in the CEP85L gene indicating lissencephaly 10. This genetic condition has abnormal gyri pattern in the occiput area. This form of lissencephaly is characterised by phenotypic heterogeneity whereby some patients have only mild mental retardation, while others have a very complex clinical picture.

In conclusion, this rare condition with the overlap of genetics between several conditions highlights the need for genetic testing even in an low middle income country (LMIC).

  • Neonatal health
  • Ophthalmology
  • Genetics

https://doi.org/10.1136/bcr-2022-252618

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    Footnotes

    • Contributors EM, MMM, RM and KPM were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. EM, MMM, RM and KPM gave final approval of the manuscript.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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