Toriello–Carey syndrome: Delineation and review

Toriello, Helga V.; Carey, John C.; Addor, Marie Claude; Allen, William P.; Burke, Leah W.; Chun, Nicole; Dobyns, William B.; Elias, Ellen Roy; Gallagher, Renata C.; Hordijk, Roel; Hoyme, H. Eugene; Irons, Mira; Jewett, Tamison; LeMerrer, Martine; Lubinsky, Mark; Martin, Rick A.; McDonald‐McGinn, Donna M.; Neumann, Luitgard M.; Newman, William G.; Pauli, Richard M.; Seaver, Laurie H.; Tsai, Anna; Wargowsky, David; Williams, Marc; Zackai, Elaine H.

doi:10.1002/ajmg.a.20493

Cited by 37 publications

(52 citation statements)

References 18 publications

(12 reference statements)

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“…The association of corpus callosum agenesis, PRS and facial dysmorphism fits the diagnosis of the Toriello-Carey syndrome, a rare presumable autosomal recessive entity with unknown genetic etiology (TCS; OMIM: 217980). 31 Interestingly, 22q12 deletions were detected before in three patients with clinical diagnosis of TCS, 12,32 suggesting clinical resemblance between the 22q12 deletion syndrome and TCS. However, in our case series, the facial phenotype does not correspond to the TCS facial gestalt, which includes short palpebral fissures, hypertelorism, a small nose and full cheeks.…”

Section: Discussionmentioning

confidence: 97%

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

et al. 2015

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We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.

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Section: Discussionmentioning

confidence: 97%

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

et al. 2015

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“…The variability in the phenotype has caused some patients to be initially diagnosed as having other entities such as Toriello-Carey syndrome or a “new syndrome”. 6, 7 Other syndromes with blepharophimosis and intellectual disability such as Ohdo syndrome (MIM249620) or the SBBYS variant of Ohdo syndrome (MIM603736), del(3p) syndrome, Maat-Kievit-Brunner syndrome (MIM 300895) and Dubowitz syndrome can be considered in the differential diagnosis of KOS. 3 Herein, we present the clinical details of a boy with an unusual phenotype who was subsequently diagnosed having KOS following identification of a novel non frameshift deletion in UBE3B by exome and Sanger sequencing.…”

Section: Introductionmentioning

confidence: 99%

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

et al. 2016

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Background Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes which were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Methods Clinical investigations coupled with, karyotype analysis, array-CGH, exome and Sanger sequencing were performed to characterize the condition in this child. Results Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay, allowed us to make a diagnosis of KOS. Conclusion Our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

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“…Among the few syndromes in which this gastrointestinal anomaly has been described, Toriello-Carey syndrome is worth highlighting. This is an autosomal recessive disorder that has in common with the syndrome described the following: camptodactyly, VSD, pulmonic stenosis, and micrognathia [Toriello et al, 2003]. However, the facial profile of Toriello-Carey syndrome is highly characteristic and is quite distinct from that of our patients.…”

Section: Discussionmentioning

confidence: 61%

Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis

Alkuraya

2010

American J of Med Genetics Pt A

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In this article, the unusual combination of arthrogryposis, upward gaze palsy, and Perthes disease in two sisters and their cousin who are all part of an extended consanguineous Saudi family is reported. All patients had difficult to control bronchial asthma and subtle facial dysmorphism. Two of the three had pyloric stenosis, two were intellectually normal, and one had academic problems but had a history of birth hypoxia. Pedigree is consistent with an autosomal recessive mode of inheritance. Lack of previous reports suggests this represents a novel syndromic form of arthrogryposis.

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Toriello–Carey syndrome: Delineation and review

Cited by 37 publications

References 18 publications

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis

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