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Alezzandrini syndrome, Margolis syndrome, Cross syndrome, and other rare genetic disorders
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Athanasios I. Pavlidis, Andreas D. Katsambas
Vici syndrome is one of the most extensive inherited human multisystem disorders reported to date, presenting invariably in the first months of life. The five principal diagnostic findings include callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency; additionally, any organ system can be involved.23 Profound developmental delay, acquired microcephaly, and marked failure to thrive have recently emerged and are, although nonspecific, as consistently associated as the five main diagnostic features and highly supportive of the diagnosis.20
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series
Published in Fetal and Pediatric Pathology, 2018
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
Targeted or Whole exome sequencing results were available in four cases (Case 14, 18, 27, 28, Table 1). Case 14 concluded to be a connective tissue disorder, showed double heterozygous putative pathogenic mutations in FBN1 and FBN2 on NGS, which cause Marfan syndrome and Beals syndrome, respectively; supporting autopsy diagnosis. Case 18 was concluded to be a syndromic corpus callosum agenesis with cortical microdysgenesis on basis of gross and histopathological findings, and the history of a previously affected sibling. NGS results showed presence of biallelic EPG5 mutations, indicating a diagnosis of Vici syndrome, which was concordant with clinical features of elder sib. Case 27 was a fetus with early onset unexplained anhydramnios with a similarly affected previous sibling. No definite diagnosis was possible on autopsy, but NGS revealed biallelic ACE mutations confirming autosomal recessive renal tubular dysgenesis as causative. Case 28 had autopsy findings suggestive of a multiple malformation syndrome. NGS results reported a heterozygous ZFPM2 mutation, which was inherited from the father. ZFPM2 variants are reported to be associated with congenital diaphragmatic hernia as seen in this fetus, but this mutation could not explain the additional finding of cystic kidney disease. No other pathogenic variant causative of renal abnormalities could be identified.
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Published in Ophthalmic Genetics, 2021
Mohammed A. Rafei, Beena Harikrishna, Khalid Al Thihli, Abdullah S. Al-Mujaini, Anuradha Ganesh
In conclusion, Vici syndrome is a rare condition. Ophthalmic assessment of our patient paved the way to a definitive diagnosis. Vici syndrome must be considered in infants with features of oculocutaneous albinism, cataracts, and callosal agenesis.