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DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Article Synopsis
- The DYNC2H1 gene is linked to short-rib polydactyly syndrome (SRPS) and other skeletal ciliopathies, with two unique cases highlighting distinct phenotypes caused by splicing variants.
- The first case involved a 14-week-old fetus with severe malformations and two compound heterozygous variants that were initially uncertain but later deemed likely pathogenic after further testing.
- The second case presented an 11-year-old boy with various physical abnormalities and identified variants in DYNC2H1, underscoring the gene's role in conditions like SRPS and orofaciodigital syndrome, enhancing understanding of splicing variants' impacts.
Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.
Pediatr Dermatol
November 2024
Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Article Synopsis
- - Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disorder caused by mutations in the OFD1 gene, resulting in various facial, oral, and digital abnormalities.
- - Skin symptoms occur in about 20%-30% of affected individuals and include evanescent milia (small cysts) and patchy hair loss (alopecia), which can mimic other conditions like tinea capitis.
- - Diagnosis can be confirmed through genetic testing, especially when clinicians suspect OFD1 due to specific trichoscopic findings, lack of response to antifungal treatments, and presence of midline anomalies.
Oro-facial-digital syndrome type 1 and neuronal migration disorders.
BMJ Case Rep
June 2024
Department of Microbiology, All India Institute of Medical Sciences, Bathinda, India.
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
Eur J Hum Genet
August 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome.
View Article and Find Full Text PDFUnraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.
Cureus
March 2024
Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors.
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