After a short introduction about the so-called Apert's syndrome. a clinical suggestive case is reported. Discussion shows how a clinic-genetical procedure may help the clinicians.
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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
Article Synopsis
- Pfeiffer syndrome (PS) is a rare genetic disorder affecting facial and limb bones, with the most severe forms being types 2 and 3.
- In this case, a 10-year-old boy with PS type 2 needed dental surgery under general anesthesia, and special care was taken due to his Chiari malformation to avoid neck hyperextension.
- The anesthesia team used a combination of sevoflurane and nitrous oxide for induction and opted for oral intubation instead of nasotracheal intubation, successfully managing the procedure with no complications.
Anomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.
J Neurosurg Pediatr
November 2024
3Neurosurgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Objective: The exact association between the frequently present anomalous intracranial venous vasculature, emissary collaterals, ventriculomegaly, and increased intracranial pressure (ICP) in children with Apert and Crouzon syndromes remains an enigma. This study aimed to evaluate the association between the aberrant venous system and ventricle size and increased ICP, and to assess the development of the venous structures over time.
Methods: This retrospective cohort study included all patients with Apert or Crouzon syndrome with available CT venography (CTV) scans of the brain.
Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.
JBJS Case Connect
October 2024
Department of Orthopedics, Children's Hospital Colorado, Aurora, Colorado.
Case: We describe treatment of severe multilevel congenital thoracic fusion in a 3-year-old girl with Apert Syndrome by posterior element excision, posterior column osteotomies, and gradual distraction with magnetically controlled growing rods (MCGR) with 3-year follow-up. We also describe short-term follow-up with similar management in an 8-year-old patient with a congenitally fused thoracic spine from Jarcho-Levin syndrome.
Conclusion: Posterior element resection and targeted posterior column osteotomies combined with gradual distraction with MCGR offers a promising treatment course for children with severe thoracic insufficiency syndrome derived from congenital fusions.
Long-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?
Childs Nerv Syst
December 2024
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Background: The aesthetic goals of midface surgery in Apert syndrome are to correct the multi-planar midface deficiency and normalize facial ratios. This study characterizes the long-term photogrammetric outcomes of midface advancement in Apert syndrome.
Methods: Patients with Apert syndrome who underwent midface distraction from 2000 to 2023 were retrospectively reviewed.
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