<p>A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review</p>

Abstract

Background: Seckel 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. Conclusion: Clinicians should be suspicious of vascular complications in patients with Seckel syndrome, even in the absence of any other risk factors.

Atrial Septal Defect Device Closure in Patients with Metabolic or Genetic Diseases

“…Atrial septal defect is not a common feature of Seckel syndrome (8). To the best of our knowledge, our patient was the first case with this syndrome in whom ASD device closure was successfully achieved.…”

“…Seckel syndrome, initially described in 1960 by Seckel, is a genetic syndrome characterized by severe growth retardation, moderate to severe mental retardation, and distinctive craniofacial features, including a beaky and protruding nose, micrognathia, large eyes, malformed ears, a narrow face, and microcephaly. Diagnosis of Seckel syndrome is primarily clinical in nature (8). Congenital cardiac diseases are not a feature of the syndrome.…”

Seckel's syndrome- a rare entity

“…Seckel syndrome is a rare condition of primordial dwarfism characterized by intrauterine and postnatal growth retardation, low birth weight, short stature, microcephaly, varying degrees of mental deficiency, typical facial appearance with beak-like protrusion of the mid face (bird-headed appearance), craniofacial dysmorphism, narrow face with malformed ears, micrognathia, receding forehead, large nose, prominent eyes, skeletal defects including clinodactyly, radial bone dislocation, significant dental alteration, caries tooth, defective hypoplastic enamel and other physical deformities. 1 Abnormalities in cardiovascular, h e m a t o p o i e t i c , e n d o c r i n e , g a s t r o i n t e s t i n a l , central nervous system are also seen in Seckel syndrome. 4 Approximately, 25% of patients have aplastic anemia or malignancies.…”

Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63

“…Seckel syndrome (MIM# 210600) is an extremely rare autosomal recessive condition characterized by intrauterine growth restriction, severe postnatal short stature, severe microcephaly, distinctive facial features with a prominent nose, and mild to severe intellectual disability (ID) (Majewski et al, 1982). Other clinical features that have been reported in patients with Seckel syndrome are cardiovascular complications (Saeidi & Shahbandari, 2020), dental abnormalities (De Coster et al, 2006), and ocular manifestations (Krzyżanowska-Berkowska et al, 2014). The syndrome was first described by German-American physician Helmut Paul George Seckel in 1960 (Seckel, 1960) and was subsequently clinically described several more times in the medical literature prior to the era in which the molecular causes started to be identified (Faivre et al, 2002;O'Driscoll et al, 2003).…”