Results 111 to 120 of about 16,390 (254)

Fraser syndrome

Indian Journal of Pathology and Microbiology, 2008
Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.
Kalpana Kumari M, Kamath Sulata, Mysorekar Vijaya, Nandini G   +3 more
doaj  

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report [PDF]

, 2018
Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Bing Yang, Yuanbai Wang, Jing Wu   +12 more
openalex   +1 more source

Acrodermatitis continua of Hallopeau: clinical perspectives. [PDF]

, 2019
Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular eruption of one or more digits. The condition presents with tender pustules and underlying erythema on the tip of a digit, more frequently arising on a finger than a toe.
Beck, Kristen M, Bhutani, Tina, Liao, Wilson, Ly, Karen, Smith, Mary Patricia, Thibodeaux, Quinn   +5 more
core  

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type [PDF]

, 2014
Sajid Malik, E. Ferda Perçin, Dorothea Bornholdt, Beate Albrecht, Antonio Percesepe, Manuela C. Koch, Antonio Landi, Bárbara Fritz, Rizwan Khan, Sara Mumtaz, Nurten Akarsu, Karl‐Heinz Grzeschik   +11 more
openalex   +1 more source

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source

Syndactyly in a litter of cats [PDF]

, 2007
Heather A. Towle Millard, W. E. Blevins, L. R. Tuer, Gert J. Breur   +3 more
openalex   +1 more source

Ankyloglossia, Syndactyly and Polydactyly in the Pediatric Patient [PDF]

, 2023
Joana Morgado Dias, Ana Alice Baptista, Nuno Alegrete, Cristina Areias, Henrique Soares   +4 more
openalex   +1 more source

Desyndactyly of 4th and 5th toe with autologus skin graft of ankle [PDF]

For a good surgical treatment of desyndactyly a good presurgical planning must be made to decrease the complications intra and post surgical. It is important to inform to the patient the surgical treatment purpouse and to leave in a background the ...
Martínez Boix, Cristina, Pérez del Pozo, María Del Carmen, Soriano Medrano, Alfredo, Trepal, Michael J., Villa Fuertes, Alejandro   +4 more
core   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source