Here we report on a 2 year 3-month-old boy with acrocephalosyndactyly, a bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.
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Apert syndrome: craniofacial challenges and clinical implications.
BMJ Case Rep
July 2024
Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India.
Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.
View Article and Find Full Text PDFLacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.
Semin Ophthalmol
February 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
Article Synopsis
- - The study examines anomalies in the lacrimal drainage system in children with Goldenhar syndrome, Rubinstein-Taybi syndrome (RTS), and Ectodermal-Ectrodactyly-Clefting syndrome (EECS), focusing on their management and outcomes based on a retrospective chart review from 2011 to 2023.
- - Results indicated that children with Goldenhar syndrome commonly experienced complex congenital nasolacrimal duct obstruction (CNLDO), while those with EECS had more severe proximal drainage issues, including rare conditions like punctal agenesis and canalicular stenosis.
- - The findings suggest that a systematic assessment and treatment of the lacrimal drainage system in patients with these syndromes can lead
Apert Syndrome - caveats of squint management.
Rom J Ophthalmol
January 2023
Department of Ophthalmology, Military Hospital (Roorkee), Uttarakhand, India.
Apert Syndrome (AS) is a rare form of acrocephalosyndactyly. The aim of the manuscript was to underline the challenging squint management in a case of Apert Syndrome. A 1.
View Article and Find Full Text PDFPatient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.
J Craniofac Surg
October 2023
Department of Neurosurgery, Craniofacial Unit, Alder Hey Children's NHS Foundation Trust.
Saethre-Chotzen syndrome (SCS) is a syndromic craniosynostosis with pathogenic variants in the TWIST1 gene showing a broad phenotypic spectrum. Controversies exist in the literature regarding surgical management with single one-stage versus patient-tailored surgery and the related reoperation rate for intracranial hypertension of up to 42%. At our center, SCS patients are offered patient-tailored surgery with single-stage fronto-orbital advancement and remodeling or fronto-orbital advancement and remodeling and posterior distraction in an individually determined order.
View Article and Find Full Text PDFLeft Ophthalmic Segment Internal Carotid Artery Aneurysm Treated with Flow Diversion in a Child with Apert Syndrome: Technical Note.
Pediatr Neurosurg
February 2023
Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA.
Introduction: Prevalence of intracranial aneurysms in children with Apert syndrome has not been described, and development of an aneurysm as a complication secondary to craniofacial surgery has never been reported.
Case Presentation: We report the rare case of a 10-year-old boy with Apert syndrome who underwent craniofacial reconstruction surgery consisting of subcranial Le Fort III osteotomies, bilateral lateral canthopexies, and nasal nares dilations for midfacial hypoplasia and resultant obstructive sleep apnea, and on routine follow-up magnetic resonance imaging (MRI) 1 year later, he was found to have a large left ophthalmic internal carotid artery (ICA) aneurysm that was not seen on MRI obtained 2 years prior. Immediately after the craniofacial surgery, the patient experienced a severe headache behind his left eye and extraocular movement abnormalities that subsided over the next days to months.
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