{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:51:03Z","timestamp":1793245863109,"version":"4.5.0"},"reference-count":9,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,6,12]]},"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:p>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 <jats:italic>FREM1<\/jats:italic> gene) had an overlapping genotypic diagnosis of autosomal recessive Fraser syndrome 2 because of the presence of a closely related mutation in <jats:italic>FREM2<\/jats:italic>. This heterozygous variant was likely to be sporadic. Another mutation was identified in the <jats:italic>CEP85L<\/jats:italic> 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.<\/jats:p>\n               <jats:p>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).<\/jats:p>","DOI":"10.1136\/bcr-2022-252618","type":"journal-article","created":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T12:34:49Z","timestamp":1687523689000},"page":"e252618","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2"],"prefix":"10.1136","volume":"16","author":[{"given":"Ernestina","family":"Mwipopo","sequence":"first","affiliation":[{"name":"Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam Mngoya","family":"Massomo","sequence":"additional","affiliation":[{"name":"Pediatrics and Child Health Neonatal Unit, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Moshiro","sequence":"additional","affiliation":[{"name":"Pediatrics, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7069-6408","authenticated-orcid":false,"given":"Karim Premji","family":"Manji","sequence":"additional","affiliation":[{"name":"Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,6,23]]},"reference":[{"key":"2025082711534544000_16.6.e252618.1","doi-asserted-by":"crossref","unstructured":"Katowitz JA , Katowitz WR . 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