The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska, Elena; Angelkova, Natalija; Palcevska-Kocevska, S; Kočova, Mirjana

doi:10.2478/v10034-012-0006-y

Cited by 12 publications

(9 citation statements)

References 32 publications

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“…Consistent with similar studies, additional malformations, including cleft palate, ptosis, squint, hypertelorism, diaphragmatic hernia, cerebral, cardiac, genital and skeletal abnormalities were also observed in our study (Aquino et al, 2015;Dellavia et al, 2011;Paradowska-Stolarz, 2014;Sukarova-Angelovska et al, 2014). A branchial fistula was found in one patient (pt 2), a finding that, to our knowledge was not reported before in WHS.…”

Section: Discussionsupporting

confidence: 92%

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Mekkawy

Kamel

Thomas

et al. 2020

Molec Gen & Gen Med

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Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods We studied the phenotype–genotype correlation. Results We present the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions. Karyotyping, FISH and MLPA was performed for screening for microdeletion syndromes. Array CGH was done for two patients. All patients exhibited the cardinal clinical manifestation of WHS. FISH proved deletion of the specific WHS locus in all patients. MLPA detected microdeletion of the specific locus in two patients with normal karyotypes, while array CGH, performed for two patients, has delineated the extent of the deleted segments and the involved genes. LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH; nevertheless, one of them did not manifest seizures. The study emphasized the previous. Conclusion WHS is a contiguous gene syndrome resulting from hemizygosity of the terminal 2 Mb of 4p16.3 region. The Branchial fistula, detected in one of our patients is a new finding that, to our knowledge, was not reported.

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Section: Discussionsupporting

confidence: 92%

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Mekkawy

Kamel

Thomas

et al. 2020

Molec Gen & Gen Med

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“…Chromosome 5 is frequently involved in reciprocal translocations, together with chromosomes 22, 11, 4 and 9 [8]. As shown in our previous report [14], in this case we have proven translocation events on the short arm of chromosome 5. Translocation between chromosomes 5p and 17q as in the present case have been reported previously [15], although in their report there were additional features associated with trisomy 17q.…”

Section: Discussionsupporting

confidence: 82%

Prenatal Diagnosis of Cryptic Translocation t(5p;17q) with Fluorescent In Situ Hybridization

Sukarova-Angelovska

Kočova

Sukarova-Stefanovska

et al. 2018

Journal of Fetal Medicine

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Reciprocal chromosomal rearrangements, de novo or inherited, often raise a concern about the foetal health and outcome of the affected pregnancies. The size and origin of the translocated chromosomes could be variable. Cryptic translocations often remain undetected and misdiagnosed. Several studies confirmed that there could be a loss of a certain amount of genomic material within breakpoints, which leads to uncertainties in predicting the pregnancy outcome. A 38 year pregnant woman approached our clinic for a genetic counselling. This was her first pregnancy, with normal foetal growth on ultrasound follow up. The amniocentesis was carried out due to the advanced maternal age. Conventional cytogenetic report showed putative deletion of short arm of chromosome 5. Cordocentesis was done additionally at 18 week of pregnancy due to the discrepancy between normal ultrasonographic finding and karyotype result. MLPA analysis showed that 5p critical region was present. FISH has been performed, using 5p;q probe (Cytocell aquarius, Cat No LPU 013), which showed cryptic de novo translocation 46,XX.ish t(5;17) (p15.1;q25). Decision to terminate the pregnancy was made due to the cytogenetic finding and reduced foetal growth recorded after 20th week. Examination at autopsy showed dysmorphism consistent with some features of cri du chat syndrome-micrognathia, hypertelorism, reduced fetal growth, as well as underdeveloped brain for gestational period. Novel technologies in molecular cytogenetics and array techniques could help in detecting minor imbalances and decrease the risk of the birth of malformed fetus. Combination of several prenatal methods -both ultrasonography and novel genetic techniques, in a small number of cases can help in the process of genetic counselling.

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“…Of the various subtypes of OFDS, the most diverse genetic mutations have been identified in patients with OFD1. Frameshift, insertion, nonsense, missense, slicing, or genomic rearrangements of OFD1 gene have been reported in cases 2 11 12 . However, study reported that OFD1 gene mutation was found in 81 of 100 OFD1 patients (81.0%) who had undergone genetic testing 13 .…”

Section: Discussionmentioning

confidence: 99%

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

et al. 2022

Ann Dermatol

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Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anomalies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.

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The Many Faces of Oral-Facial-Digital Syndrome

Cited by 12 publications

References 32 publications

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

Prenatal Diagnosis of Cryptic Translocation t(5p;17q) with Fluorescent In Situ Hybridization

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

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