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A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities.
Fetal Pediatr Pathol
June 2021
Prenatal Diagnosis Center, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Background: Chromosome reciprocal translocations are frequently occurring structural rearrangements observed in humans. Although individuals with balanced reciprocal translocations tend to be clinically normal, they have an increased risk of reproductive failure, miscarriage and abnormal phenotype. A 14 days old neonate was found to have a 46,X,der(Y)t(Y;18)(q12;q11)pat karyotype causing multiple dysmorphisms and death within one month.
View Article and Find Full Text PDF[Evolution of the indications of orthognathic surgery].
Rev Med Brux
December 2018
Service de Stomatologie et Chirurgie maxillo-faciale, CHU Saint-Pierre, ULB.
Orthognathic surgery evolved over the last 30 years, which has reduced the morbidity of interventions and widened its field of indication. The management of dysmorphosis, obstructive sleep apnea syndrome, fracture sequelae and facial esthetics can be managed successfully thanks to these interventions, the scarring of which is almost absent.
View Article and Find Full Text PDFTelogen hair loss and androgenetic-like alopecia in GAPO syndrome.
Australas J Dermatol
May 2019
Department of Developmental Biology, Harvard School of Dental Medicine and Harvard Medical School, Boston, Massachusetts, USA.
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (GAPO) syndrome is a rare autosomal recessive condition whose cardinal features include a recognizable craniofacial dysmorphosis, growth retardation, alopecia, pseudoanodontia, and premature aging. We report on a 2-year-old Pakistani man affected with GAPO syndrome who additionally shows an androgenetic-like alopecia with normal testosterone levels and telogen hair loss. These are novel findings in GAPO syndrome.
View Article and Find Full Text PDFA frequent phenotype for paediatric sleep apnoea: short lingual frenulum.
ERJ Open Res
July 2016
Stanford University Sleep Medicine Division, Redwood City, CA, USA.
A short lingual frenulum has been associated with difficulties in sucking, swallowing and speech. The oral dysfunction induced by a short lingual frenulum can lead to oral-facial dysmorphosis, which decreases the size of upper airway support. Such progressive change increases the risk of upper airway collapsibility during sleep.
View Article and Find Full Text PDF[Occipitalization of the atlas. Radiological diagnosis and clinical significance].
Rev Stomatol Chir Maxillofac Chir Orale
June 2013
Clinique de chirurgie maxillofaciale et de stomatologie, centre hospitalier universitaire de Nantes, 1 place Alexis-Ricordeau, Nantes, France.
Introduction: Occipitalization of the atlas is the most common malformation of the craniovertebral junction. It can be diagnosed on lateral teleradiography and its finding imposes screening for associated atlantoaxial instability. In case of instability, brisk movements of the cervical spine during surgery may result in compression and distortion of the spinal chord and vertebro-basilar vascular system.
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