Results 111 to 120 of about 6,061 (174)
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 +3 more
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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 +2 more
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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 +4 more
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An unusal case of hermaphroditism - A 46,XX/69,XXY chimera [PDF]
, 2004 Wales, J.K.H., Wright, N.P.
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A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]
, 2016 et al,, Grange, Dorothy K
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Genetic analyses of Hemicentin and its interaction with extracellular matrix proteins in zebrafish and mouse [PDF]
, 2011 Martins Feitosa, Natália
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Classification and developmental biology of congenital anomalies of the hand and upper extremity [PDF]
, 2009 Manske, Paul R., Oberg, Kerby C.
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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly [PDF]
, 2019 McNeill, Helen
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