Results 31 to 40 of about 3,428 (220)

Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation [PDF]

, 2004
In goats, the PIS (polled intersex syndrome) mutation is responsible for both the absence of horns in males and females and sex-reversal affecting exclusively XX individuals.
Bernard Vigier, Corinne Cotinot, Daniel Vaiman, Edmond P. Cribiu, Eric Pailhoux, Laurent Schibler   +5 more
core   +2 more sources

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

Journal of Anaesthesiology Clinical Pharmacology, 2011
Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and
Dalim Kumar Baidya, Puneet Khanna, Anil Kumar, Dilip Shende   +3 more
doaj   +1 more source

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report [PDF]

, 2003
Background Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and
Nicola C Ho, Stacey Sandusky, Victor Madike, Clair A Francomano, Marinos C Dalakas, O Schwartz, RM Pascuzzi, S Nicole, E Arikawa-Hirasawa, D Viljoen, SA Farrell, A Giedion, E Arikawa-Hirasawa, HB Peng, E Arikawa-Hirasawa, LA Squires, M Eikermann   +16 more
core   +2 more sources

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Indian Journal of Ophthalmology, 2014
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.
Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada   +5 more
doaj   +1 more source

Visuo-motor performance in children visually impaired due to fetal alcohol syndrome (FAS) [PDF]

, 2013
Purpose: To investigate the ophthalmological characteristics and to evaluate the magnocellular function in Russian orphanage children with fetal alcohol syndrome (FAS).
Gummel, Kristina
core   +1 more source

Visual development in the blepharophimosis syndrome. [PDF]

British Journal of Ophthalmology, 1991
One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is ...
M, Beaconsfield, J W, Walker, J R, Collin   +2 more
openaire   +2 more sources

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]

, 2010
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Waldemar Bobkowski, Ryszard Slomski, Anna Latos-Bielenska, Aldona Siwinska   +13 more
core   +1 more source

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report [PDF]

, 2011
Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation ...
Andrea Ballini, Apollonia Desiate, Domenica Tullo, Stefania Cantore   +3 more
core   +2 more sources

Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome

TNOA Journal of Ophthalmic Science and Research, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We
Reshma Ramakrishnan, Sayali Santosh Amberkar, Priyanka Gandhi   +2 more
doaj   +1 more source

A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid [PDF]

, 2016
published_or_final_versio
Cheng, MH, Choy, KW, Pang, CP, Sham, MH, Song, Y, Tam, CN, Tsang, SL, Tsang, WH   +7 more
core   +1 more source