Four patients from three consecutive generations of a family with ocular hypotelorism are described. Radiographs document a subnormal distance between the medial orbital walls. To our knowledge, this is the first report of heritable isolated orbital hypotelorism. The pedigree is consistent with an autosomal dominant disorder.
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http://dx.doi.org/10.1001/archopht.1984.01040030797019 | DOI Listing |
Ultraschall Med
October 2024
Medical Practice, Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presence of the orbits and the lenses. However, in recent years, with the advent of high-resolution ultrasound technology and increasing knowledge of prenatal medicine and genetics, careful examination of the fetal eye has enabled the detection of many ocular malformations before birth.
View Article and Find Full Text PDFOrphanet J Rare Dis
May 2024
Service de chirurgie maxillofaciale et chirurgie plastique, Hôpital Necker - Enfants malades, Assistance Publique - Hôpitaux de Paris, CRMR CRANIOST, Faculté de Médecine, Université Paris Cité, Paris, France.
Background: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required.
View Article and Find Full Text PDFZhonghua Kou Qiang Yi Xue Za Zhi
August 2023
Department of Implantology, Stomatological Hospital and Dental School of Tongji University, Shanghai Engineering Research Center of Tooth Restoration and Regeneration, Shanghai 200072, China.
Primary cilia protruding from cell surface are important cell receptors and exist in most types of vertebrate cells. Primary cilia can sense extracellular mechanical signals, chemical signals as well as optical signals, and transduce them into cells, which is crucial for embryonic development and maintenance of tissue homeostasis. Mutations of gene that are responsible for the structure or function of cilia can lead to abnormal cilia signal transport, which in turn leads to ciliopathies.
View Article and Find Full Text PDFJ Craniofac Surg
April 2022
Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Metopic craniosynostosis is a condition in which the metopic suture is prematurely fused. Trigonocephaly and hypotelorism are the major abnormal findings associated with synostosis. Fronto-orbital advancement with cranial remodelling procedure is the widely practised method for correction of the deformities.
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