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Bilateral Glaucoma as Possible Additional Feature for -Associated Hyperphosphatasia.
Case Rep Genet
March 2024
Department of Laboratory Medicine, Faculty of Applied Medical Sciences, Umm Al Qura University, Makkah, Saudi Arabia.
Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities.
View Article and Find Full Text PDFQuestion Mark Ear: An Unusual Anomaly and a Novel Surgical Technique for Reconstruction.
J Craniofac Surg
February 2024
Department of Plastic, Reconstructive and Aesthetic Surgery, Cerrahpasa Medical Faculty, Istanbul University - Cerrahpasa, Istanbul, Turkey.
The question mark ear is a rare abnormality characterized by a cleft between the helix and the earlobe, resulting in a protrusion of the upper part of the ear. The severity of this ear malformation can range from a minor notch in the helix to a complete separation of the helix and the earlobe. In this study, we present a case of a patient with a moderately severe right-sided unilateral question mark deformity.
View Article and Find Full Text PDFManagement of the Congenital Cleft Earlobe with a Conchal Cartilage Graft.
Facial Plast Surg
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Department of Plastic and Reconstructive Surgery, Great Ormond Street Hospital for Children and Great Ormond Street Institute for Child Health, University College London, London, United Kingdom.
Congenital earlobe clefts are the most common lower auricular malformations. They represent a unique reconstructive challenge. The goal of surgery includes restoration of a natural lobular contour and volume as well as a fine surgical scar.
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