Disproportionate Short Stature in Nail Patella Syndrome: Clinical, Radiological, and Genetic Insights

Basit Öğe Kaydı
dc.authoridhttps://orcid.org/0000-0002-5620-8199
dc.authoridhttps://orcid.org/0000-0003-0511-6611
dc.authoridhttps://orcid.org/0000-0002-8861-7106
dc.authoridhttps://orcid.org/0000-0003-2865-4420
dc.authoridhttps://orcid.org/0000-0003-1684-1624
dc.authoridhttps://orcid.org/0000-0001-9696-0433
dc.contributor.authorYaşartekin, Yüksel
dc.contributor.authorDirican, Onur
dc.contributor.authorHusseini, Abbas Ali
dc.contributor.authorBuluş, Ayşe Derya
dc.contributor.authorIşın, Uğur Ufuk
dc.contributor.authorErgün, Mehmet Ali
dc.date.accessioned2025-08-12T06:40:53Z
dc.date.available2025-08-12T06:40:53Z
dc.date.issued2025
dc.departmentSağlık Hizmetleri Meslek Yüksekokulu
dc.description.abstractThis case report presents an 11-year-old male with disproportionate short stature as a rare manifestation of Nail Patella Syndrome (NPS). NPS is an autosomal dominant disorder caused by mutations in the LMX1B gene and is typically characterized by nail dysplasia, skeletal anomalies, and renal complications. The patient exhibited classical features of NPS, including dysmorphic traits, nail abnormalities, and radiological evidence of patellar aplasia and iliac horns. Genetic analysis identified a p.Arg221Ter pathogenic variant in LMX1B, confirming the diagnosis. Importantly, comprehensive evaluations excluded endocrine, renal, and systemic causes for short stature, suggesting it as a direct, albeit uncommon, feature of NPS. This case underscores the importance of genetic testing in diagnosing atypical presentations and highlights the need for tailored management, including regular monitoring for renal and ophthalmological complications. By documenting short stature in NPS, this report expands its clinical spectrum, contributing valuable insights to the understanding of this complex condition.Keywords: Chronic pancreatitis, complication, ductal rupture
dc.identifier.citationYaşartekin Y, Dirican O, Ali Husseini A, Buluş AD, Işın UU, Ergün MA. Disproportionate Short Stature in Nail Patella Syndrome: Clinical, Radiological, and Genetic Insights. Journal of Emergency Medicine Case Reports. 2025;16(1): 7-11
dc.identifier.doi10.33706/jemcr.1497983
dc.identifier.endpage11
dc.identifier.issn2149-9934
dc.identifier.issue1
dc.identifier.startpage7
dc.identifier.urihttps://hdl.handle.net/11363/10254
dc.identifier.volume16
dc.identifier.wos001476760800003
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.institutionauthorDirican, Onur
dc.institutionauthorHusseini, Abbas Ali
dc.institutionauthoridhttps://orcid.org/0000-0003-0511-6611
dc.institutionauthoridhttps://orcid.org/0000-0002-8861-7106
dc.language.isoen
dc.publisherEMERGENCY MEDICINE PHYSICIANS ASSOC TURKEY, YUKARI AYRANCI GÜLERYUZ SK NO 26-19, ANKARA, CANKAYA 06550, Turkiye
dc.relation.ispartofJOURNAL OF EMERGENCY MEDICINE CASE REPORTS
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectChildhood anomalies
dc.subjectnail-patella syndrome
dc.subjectshort stature
dc.titleDisproportionate Short Stature in Nail Patella Syndrome: Clinical, Radiological, and Genetic Insights
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
Makale / Article
Boyut:
868.83 KB
Biçim:
Adobe Portable Document Format
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
[ N/A ]
İsim:
license.txt
Boyut:
1.17 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Web of Science ve Scopus Atıf Dizinlerindeki Yayınlar
WoS İndeksli Yayınlar Koleksiyonu