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Article

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.

BMJ case reports - 23 Jun 2023

Mwipopo Ernestina, Massomo Mariam Mngoya, Moshiro Robert, Manji Karim Premji

Abstract excerpt

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...

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Identifiers

PMID: 37353237
DOI: 10.1136/bcr-2022-252618
PMCID: PMC10314527

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Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.PMID 37353237Read ↗

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