Results 61 to 70 of about 809 (163)

Apert syndrome with frontonasal encephalocele [PDF]

, 1985
We describe a female infant with Apert syndrome (acrocephalosyndactyly, type I) and a frontonasal encephalocele with unremarkable family history.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38238/1/1320210422_ftp ...
Barr, Mason, DiPietro, Michael A., Waterson, John R.   +2 more
core   +1 more source

Rare diseases and congenital malformations integrated registry in Tuscany-Italy [PDF]

Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment.
Bianchi, Fabrizio, Pierini, Anna, Pieroni, Federica, Rial, Michela   +3 more
core  

Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: An Applied Anthropometric Method [PDF]

, 1986
The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones.
Archibald, Arias, Arias, Arias, Butler, Butler, Butler, Dijkstra, Escobar, Felman, Fenger, Gall, Garn, Giedion, Halal, Halal, Hayes, Kaler, Kaler, Landry, Miura, Mooij, Parish, Park, Peeters, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Proger, Robinow, Say, Schinzel, Shprintzen, Young   +38 more
core   +1 more source

Diagnosis of Pfeiffer Syndrome with Umbilical Hernia

Pakistan Journal of Medicine and Dentistry
Pfeiffer syndrome (PS) is a form of acrocephalosyndactyly, a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Bhesham Kumar Shahani, Aneel Kumar Vaswani, Waseem Mehmood Nizamani   +2 more
doaj  

Meinhard Robinow: An appreciation [PDF]

, 1995
No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38264/1/1320590103_ftp ...
Lenz, McKusick, Robinow, Sobel
core   +1 more source

Acne-Associated Syndromes [PDF]

, 2017
Introduction: Acne, a chronic inflammatory disorder of pilosebaceous unit, is characterized by comedones, pustules, papules, nodules, cysts, and scars. It affects nearly 85% of adolescents.
Emiroglu, Nazan
core   +2 more sources

Apert Syndrome: New Treatment and a Perspective for the Future [PDF]

, 2015
Treatment the Apert Syndrome is unique, therefore, divergences exist in the priority of the procedures performed by each team. The Apert Syndrome occurs in approximately 1/65,000 births and accounts for 4.5% of all craniosynostosis. Some changes in Apert
Barbosa do Nascimento, Vânia, Batista Pereira, Janaina, Braga, Hiroe Alencar, Caldas Lins, Hellen Lúcia, de Matos Cassiano, Cícera Janielly, Gonçalves Leite, Bruno, Gonçalves Pinheiro, Patrícia, Rolim Neto, Modesto Leite, Silva Damasceno, Kécia, Tavares Filgueiras, Ana Beatriz   +9 more
core   +1 more source

A Case of Acrocephalosyndactyly

Orthopedics & Traumatology, 1980
A case of Apert's syndrome was reported.A 13 month-old girl: normal delivery.Abnormalities of the hands, feet and face were noticed at her birth. Her hands and feet showed high degrees of syndactylism—the so-called mitten hand and spatula foot.Craniectomy was performed when she was 3 months old. Release of the thumb and the first toe was carried out on
Y. Higuchi, A. Matsuzaki, T. Iwasaki, T. Furukawa   +3 more
openaire   +2 more sources

Apert syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2010
Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early
Premalatha, Kannan V, Madhu
doaj  

Tarsal coalition (rigid flatfoot) [PDF]

, 2012
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of tarsal ...
Burroughs, Kevin, Vasser, Elizabeth C.
core