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Delleman- Oorthuys Syndrome: A Diagnostic Dilemma!
Indian Dermatol Online J
March 2022
Department of D.V.L, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.
From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
Childs Nerv Syst
June 2022
Department of Radiology, Hospital de Clínicas da Universidade Federal Do Paraná, Curitiba, Paraná, Brazil.
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test.
View Article and Find Full Text PDFOculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.
Eur J Ophthalmol
January 2022
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Introduction: Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia.
Case Description: A 4-day old baby boy was referred to our hospital for the evaluation of buphthalmos in the left eye. His clinical evaluation was remarkable for oculocerebrocutaneous syndrome with congenital glaucoma in the left eye and microphthalmos in the right eye.
Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report.
Ther Adv Ophthalmol
December 2018
Division of Neurological Surgery, Department of Surgery, College of Medicine, University of Ibadan, Ibadan, PMB 5112, Ibadan, Oyo Sate, Nigeria.
Background: Delleman-Oorthuys syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital anomaly with ocular, cerebral and cutaneous manifestations. So far, only 40 cases have been described.
Clinical Case: A 3-year-old female Nigerian child with no identifiable left eyeball, multiple left-sided facial skin defects and delayed developmental milestones but otherwise uneventful medical and family history was evaluated at the Ophthalmology and Paediatric Neurosurgery in Ibadan, Nigeria.
An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
Am J Med Genet C Semin Med Genet
December 2018
Department of Pediatrics, University of Washington, Seattle, Washington.
Oculocerebrocutaneous syndrome (OCCS) is a rare disorder characterized primarily by congenital skin, eye, and brain anomalies. The most distinctive findings are hypoplastic or aplastic skin defects; pedunculated, typically hamartomatous, or nodular skin appendages; cystic microphthalmia; and a combination of forebrain anomalies and a specific mid-hindbrain malformation. Based on a review of 40 patients with OCCS, existing clinical criteria have been revised.
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