Results 21 to 30 of about 12,301 (210)

Wolf–Hirschhorn syndrome – a case report

Pediatria i Medycyna Rodzinna, 2017
Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p).
Halyna Bulak, Dzwenyslava Kopanska
doaj   +1 more source

Acrogeria: A rare congenital aging syndrome

Indian Journal of Paediatric Dermatology, 2023
Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an “owl-eyed” appearance, and a
Aparna Thirumalaiswamy, Vidya D Kharkar, Anmol Bhargava   +2 more
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Seckel syndrome: A case report of the rare syndrome

Journal of Dr. NTR University of Health Sciences, 2018
Seckel syndrome is a rare genetic disorder characterized by marked intra-uterine growth retardation (primordial dwarfism) and post natal dwarfism, microcephaly, mental retardation and typical facial features with a 'bird-headed' appearance.
N Mahesh, Sivan Sathish, Lakshmayya Naidu, Sanjay Reddy, J Rajesh K. Reddy, Pavan Kancherla   +5 more
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Orthodontic Evaluation and Craniofacial Characteristics of a Patient with Dubowitz Syndrome: A Case Report

European Annals of Dental Sciences, 2022
This case report presents the orthodontic evaluation and treatment planning of a patient with Dubowitz syndrome, an autosomal recessive inherited and rare genetic disorder characterized by microcephaly, growth retardation, high sloping forehead, facial ...
Ayşe Altuğ Demiralp, Zeynep Gurpinar Gizli   +1 more
doaj   +1 more source

Focus on Prenatal Detection of Micrognathia [PDF]

, 2019
Fetal micrognathia involves abnormal or arrested development of the fetal mandible. Till recently, the prenatal diagnosis was subjective, based on the evaluation of the fetal profile and assessment of the relationship between the maxilla and the mandible.
Antonakopoulos, N, Nikolaos Antonakopoulos, Bhide, A, Amar Bhide   +3 more
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Apert's syndrome: A rare craniofacial disorder

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2020
Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet.
Prajakta C Khelkar, Aaditi N Kadam, Freny R Karjodkar, Kaustubh P Sansare   +3 more
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Surgical outcome and treatment trends in 1289 infants with micrognathia: a multicenter cohort

, 2023
BACKGROUND: Studies of infants with micrognathia, especially Robin sequence, are limited by its rarity and both phenotypic and diagnostic variability. Most knowledge of this condition is sourced from small, single-institution samples.
Vyas, Raj M, Children’s Hospitals Neonatal Consortium Micrognathia Focus Group, Wright, Joshua M, Padula, Michael A, Khatija W. Naing, Coghill, Carl H, Christopher M. Cielo, Maithilee D. Menezes, Jeffrey A. Goldstein, Raj M. Vyas, Cory M. Resnick, Naing, Khatija W, Cielo, Christopher M, Jordan W. Swanson, Michael A. Padula, Molter, David W, Goldstein, Jeffrey, S. Alex Rottgers, Carl H. Coghill, Menezes, Maithilee D, Swanson, Jordan W, Joshua M. Wright, Rottgers, S Alex, Irfan Ahmad, David W. Molter, Resnick, Cory M, Ahmad, Irfan   +26 more
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Three-dimensional ultrasonographic presentation of micrognathia [PDF]

, 2002
Objective: to present the variable appearance of micrognathia in fetuses by three-dimensional ultrasonography and to describe practical methods for analysis of these volume data.
McNie, Beverley, Vettraino, Ivana M., Chaiworapongsa, Tinnakorn, Comstock, C.hristine H., Conoscenti, Giancarlo, Kalache, Karim D., Lee, Wesley, Romero, Roberto   +7 more
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True Cyclopia–Very Rare Anomaly [PDF]

Journal of Clinical and Diagnostic Research, 2014
During our routine postmortem examination, we found a female infant with “True Cyclopia.” The two entire eye balls had fused completely to form one midline organ. The infant was a female who weighed 2910 g. The gestation period was 35 weeks.
K. R. Srinivasan, N. Abraham Ratna Joseph, P. Koteswary   +2 more
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Mandibular Distraction Osteogenesis in the Micrognathic Neonate: A Review for Neonatologists and Pediatricians

Pediatrics and Neonatology, 2013
In the past, severe neonatal upper airway obstruction secondary to micrognathia was managed with a tracheostomy. Although effective, tracheostomy can cause many short-term and long-term complications.
Paul Hong, Michael Bezuhly
doaj   +1 more source