Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania.
Pediatrics and Child Health Neonatal Unit, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania.
BMJ Case Rep. 2023 Jun 23;16(6):e252618. doi: 10.1136/bcr-2022-252618.
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 gene) had an overlapping genotypic diagnosis of autosomal recessive Fraser syndrome 2 because of the presence of a closely related mutation in This heterozygous variant was likely to be sporadic. Another mutation was identified in the 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).
一名男婴，双侧隐耳，无眉毛，前发际线扭曲，鼻尖分叉，耳朵低位，眼距过宽，肛门直肠低位异常，表型诊断为马尼托巴眼-毛-肛综合征（基因突变），由于存在密切相关的突变，其基因型诊断为常染色体隐性 Fraser 综合征 2。这种杂合变异很可能是散发性的。另一个突变被发现在 基因中，提示无脑回 10 畸形。这种遗传条件在枕区有异常脑回模式。这种无脑回畸形的特点是表型异质性，有些患者只有轻度智力障碍，而有些患者则有非常复杂的临床表现。总之，这种罕见的疾病与几种疾病之间存在遗传重叠，即使在中低收入国家（LMIC）也需要进行基因检测。
