Results 101 to 110 of about 15,172 (214)

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy

Indian Journal of Paediatric Dermatology, 2016
Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects.
Bharati Sahu, Smita Rani Samal, Prasenjeet Mohanty, Manas Ranjan Puhan   +3 more
doaj   +1 more source

Syndactyly

, 2021
Daniel J. Jordan, Kavish Maheshwari, Rakhee Nayar, Sandip Hindocha   +3 more
openaire   +2 more sources

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

Prenatal ultrasound diagnosis of poland syndrome [PDF]

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

Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype

Frontiers in Genetics
Floating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the SRCAP gene.
Junxiang Tang, Yanhong Cao, Daoqi Huang, Chaohong Wang, Xiaohua Jiang, Jiansheng Zhu   +5 more
doaj   +1 more source

Syndactylie [PDF]

, 2021
openaire   +1 more source

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  

Classification and developmental biology of congenital anomalies of the hand and upper extremity [PDF]

, 2009
Manske, Paul R., Oberg, Kerby C.
core   +2 more sources

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