Results 31 to 40 of about 3,759 (221)

Clinical spectrum of Treacher Collins syndrome

Journal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra, Mahdi Hasan, Rahul Pandey, Sumit Kumar   +3 more
doaj   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT [PDF]

, 2011
Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and ...
Angotti, R, Burgio, A, Garzi, A, Giannotti, G, Messina, M   +4 more
core   +1 more source

A familial case of cleidocranial dysostosis presenting upper limb ischemia

São Paulo Medical Journal
CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented ...
Walter Campos Júnior, Roberta Murasaki Cardoso, Ronald Fidelis, Erasmo Simão da Silva, Rodrigo Ramos   +4 more
doaj   +1 more source

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order.
K Nagaraju, E Ranadheer, P Suresh, S P Tarun   +3 more
doaj   +1 more source

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature

Case Reports in Dentistry, 2020
Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface ...
Farnoosh Mohammadi, Afrooz Javanmard, Hamid Mojtahedi   +2 more
doaj   +1 more source

Posterior vault distraction osteogenesis in Apert syndrome

Archives of Pediatric Neurosurgery, 2022
Apert syndrome is an uncommon autosomal dominant condition with a varied clinical spectrum which includes  premature cranial and facial suture fusion and complex upper and lower limb syndactilies.
Cassio Raposo-Amaral, Cesar Augusto Raposo-Amaral, Enrico Ghizoni   +2 more
doaj   +1 more source

An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]

, 2016
Apert syndrome is a rare condition, with a birth prevalence of approximately 1 in 65 000. This article provides an up to date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts.
Hilton, C
core   +1 more source

Congenital generalized hypertrichosis: The skin as a clue to complex malformation syndromes [PDF]

, 2015
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients,
CORSELLO, Giovanni, Falsaperla, R., Neri, G., Pavone, P., Praticò, A., Ruggieri, M., Zollino, M.   +6 more
core   +2 more sources

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]

, 1997
Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty, Christian Lanctôt, Debra Gilbert, Jacques Drouin, Jacques J. Tremblay, Michael J. Crawford, Montréal Québec Hw, Nancy Jenkins, Neal Copel   +8 more
core   +4 more sources