Association of Seizure, Facial Dysmorphism, Congenital Umbilical Hernia and Undescended Testes
نویسندگان
چکیده
منابع مشابه
Association of seizure, facial dysmorphism, congenital umbilical hernia and undescended testes.
With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI findings may...
متن کاملCongenital Cataracts – Facial Dysmorphism – Neuropathy
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous sys...
متن کاملUndescended and Maldescended Testes
Retractile testes [1] Prepubertal boys can have an exaggerated cremasteric reflex. The testis may retract out of the scrotum in the cold, on examination, on excitement or on physical activity. It is normal and will descend when relaxed and warm, or it can be manipulated back into the scrotum. Retractile testes do not need any treatment but do need close follow-up until puberty, as they can beco...
متن کاملUndescended and Maldescended Testes
Retractile testes [1] Prepubertal boys can have an exaggerated cremasteric reflex. The testis may retract out of the scrotum in the cold, on examination, on excitement or on physical activity. It is normal and will descend when relaxed and warm, or it can be manipulated back into the scrotum. Retractile testes do not need any treatment but do need close follow-up until puberty, as they can beco...
متن کاملScreening for undescended testes
There is general consensus among surgeons and paediatricians that cryptorchidism should be detected and treated by the age of 5 years, if not earlier. In reality, incomplete descent is often detected weli beyond the age of 5. The effectiveness of local screening was assessed by reviewing the screening history and subsequent management of boys treated for undescended testes between 1983 and 1986...
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ژورنال
عنوان ژورنال: Kathmandu University Medical Journal
سال: 2012
ISSN: 1812-2078,1812-2027
DOI: 10.3126/kumj.v10i1.6924