Interdisciplinary Rehabilitation of a Patient With Opitz C-Syndrome and Extensive Craniofacial Malformation

Ballon, Alexander; Landes, Constantin A.; Sader, Robert; Kovács, Adorján F.

doi:10.1097/scs.0b013e31802d8ae0

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References 13 publications

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“…In the same way, other findings previously reported in patients with OTCS can also be reinterpreted such as short ribs , rhizomelic shortening of the limbs, postaxial polydacytyly , large multicystic kidneys , multiple peripheral renal cysts , hepatomegaly, pancreas fibrosis, and fetal lobulation of kidneys , hypoplasia of corpus callosum , Dandy–Walker malformation , posterior encephalocele and intellectual disability or developmental delay. Excluding reports of patients with BOS, chromosomal abnormalities, and other C‐like phenotypes, we found 41 cases reported with OTC as its unique and best diagnosis (Table ). Of these, about half of the cases do not include the information required to determine the presence or absence of anomalies of internal organs and skeletal defects indicative of ciliary dysfunction, and thus its frequency remains undetermined.…”

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confidence: 99%

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

et al. 2017

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〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c.723 + 1 G > T) and a 17 bp deletion, impacting the first coding exon (c.-11_6del). The variants were confirmed as being biallelic using Sanger sequencing, showing that the splice variant was inherited from the propositus mother and the deletion from the father. To date, Mainzer-Saldino syndrome, Jeune syndrome, and a form of nonsyndromic retinal dystrophy, have been identified as ciliopathies caused by IFT140 mutations. We provide the first description of an OTCS phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy.

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