The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia
Genitopatellar syndrome (GPS) is a rare genetic disorder characterized by a spectrum of clinical manifestations including the absence of patellae, psychomotor retardation, congenital flexion deformity of the lower limbs, and genitourinary abnormalities. A 5-year-old female presented to the Faculty o...
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| Format: | Article |
| Language: | English |
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Wiley
2025-01-01
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| Series: | Case Reports in Dentistry |
| Online Access: | http://dx.doi.org/10.1155/crid/5053711 |
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| author | Sara Alzanbaqi Ahmed Ghibban Zuhair S. Natto |
| author_facet | Sara Alzanbaqi Ahmed Ghibban Zuhair S. Natto |
| author_sort | Sara Alzanbaqi |
| collection | DOAJ |
| description | Genitopatellar syndrome (GPS) is a rare genetic disorder characterized by a spectrum of clinical manifestations including the absence of patellae, psychomotor retardation, congenital flexion deformity of the lower limbs, and genitourinary abnormalities. A 5-year-old female presented to the Faculty of Dentistry Clinic for a routine dental examination. Physical examination revealed distinctive phenotypic features, notably wide thumbnails and limb wrinkling, while facial appearance appeared within normal limits. At birth, the patient exhibited dysmorphic clubfoot, genital anomalies, bilateral hydronephrosis, and hepatomegaly. Subsequent MRI evaluation disclosed bilateral dysplastic femoral trochlea with lateral patellofemoral dislocation, accompanied by marked tibial rotation and vertical talus. Additionally, bilateral hindfoot valgus deformity and first metatarsophalangeal joint flexion deformity were noted. Molecular analysis using Sanger sequencing identified a de novo heterozygous nonsense mutation (c.4117, p.Glu1373Ter) in the KAT6B gene. Oral examination revealed shortened clinical crowns, absence of caries in the primary teeth, and delayed eruption of the primary canines (Cs) and second molars (Es). Radiographic assessment demonstrated existing primary Es and incisors with delayed eruption. This report elucidates a potential association between GPS and oral manifestations, particularly highlighting delayed eruption of primary Es. Since there is a scarcity of publications addressing the oral and dental manifestations of the syndrome, this clinical case contributes, albeit not specifically, to the diagnosis. |
| format | Article |
| id | doaj-art-882abeb3b75c4f6b88504bdf592906b7 |
| institution | Kabale University |
| issn | 2090-6455 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dentistry |
| spelling | doaj-art-882abeb3b75c4f6b88504bdf592906b72025-08-21T00:00:03ZengWileyCase Reports in Dentistry2090-64552025-01-01202510.1155/crid/5053711The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi ArabiaSara Alzanbaqi0Ahmed Ghibban1Zuhair S. Natto2Department of Pediatric DentistryDepartment of Pediatric DentistryDepartment of Dental Public HealthGenitopatellar syndrome (GPS) is a rare genetic disorder characterized by a spectrum of clinical manifestations including the absence of patellae, psychomotor retardation, congenital flexion deformity of the lower limbs, and genitourinary abnormalities. A 5-year-old female presented to the Faculty of Dentistry Clinic for a routine dental examination. Physical examination revealed distinctive phenotypic features, notably wide thumbnails and limb wrinkling, while facial appearance appeared within normal limits. At birth, the patient exhibited dysmorphic clubfoot, genital anomalies, bilateral hydronephrosis, and hepatomegaly. Subsequent MRI evaluation disclosed bilateral dysplastic femoral trochlea with lateral patellofemoral dislocation, accompanied by marked tibial rotation and vertical talus. Additionally, bilateral hindfoot valgus deformity and first metatarsophalangeal joint flexion deformity were noted. Molecular analysis using Sanger sequencing identified a de novo heterozygous nonsense mutation (c.4117, p.Glu1373Ter) in the KAT6B gene. Oral examination revealed shortened clinical crowns, absence of caries in the primary teeth, and delayed eruption of the primary canines (Cs) and second molars (Es). Radiographic assessment demonstrated existing primary Es and incisors with delayed eruption. This report elucidates a potential association between GPS and oral manifestations, particularly highlighting delayed eruption of primary Es. Since there is a scarcity of publications addressing the oral and dental manifestations of the syndrome, this clinical case contributes, albeit not specifically, to the diagnosis.http://dx.doi.org/10.1155/crid/5053711 |
| spellingShingle | Sara Alzanbaqi Ahmed Ghibban Zuhair S. Natto The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia Case Reports in Dentistry |
| title | The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia |
| title_full | The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia |
| title_fullStr | The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia |
| title_full_unstemmed | The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia |
| title_short | The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia |
| title_sort | intersection of genitopatellar syndrome and oral health a case report at saudi arabia |
| url | http://dx.doi.org/10.1155/crid/5053711 |
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