ArticleInternational medical case reports journal2020
A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.
Article in International medical case reports journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Pooled it
- Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant inChildren (Basel, Switzerland) · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeckel syndrome is a rare genetic disorder with autosomal recessive inheritance. It is characterized by dysmorphic features, intrauterine and postnatal growth restriction, microcephaly and mental retardation. Although cardiovascular complications are not prevalent in this syndrome, severe sinus bradycardia, hypertension and brain vasculopathy are reported. Here, for the first time, we describe a case of lower extremity arterial occlusion in a case of Seckel syndrome. CASE PRESENTATION: An 8-year-old girl with the characteristic features of Seckel syndrome was admitted to the children's hospital with the complaint of left lower extremity pain and a deep ulcer on her left shin. On examination, the left extremity was cooler than the other side, with a bluish color. Dorsalis pedis and popliteal artery pulses were not palpable on the left. A wound measuring 3 by 5 cm with gangrenous margins was visible on the anterior surface of the left leg. Severe stenosis in the left superficial femoral artery was reported on angiography. Considering the lean body of the patient, angioplasty was not possible and conservative wound care, analgesic drugs and aspirin were recommended.
conclusionClinicians should be suspicious of vascular complications in patients with Seckel syndrome, even in the absence of any other risk factors.
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