TPN-free 11 y/ alive/- F: Female; M: Male; MMIH: Megacystis-microcolon-intestinal hypoperistalsis; WS: Waardenburg Syndrome
; EA: Enteric anendocrinosis; IND: Intestinal neuronal dysplasia; SBT: Small bowel transplantation, Tx: Transplantation; TPN: Total parenteral nutrition; "Including Lactobacillus reuteri (5 drops/day) Table 2.
According to Martinez, the first SPMC patient named Vin is only the third in the Philippines with Waardenburg Syndrome
, a genetic condition which can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
Keywords: Waardenburg syndrome
, piebaldism, dystopia canthorum, synophrys.
DISCUSSION: Waardenburg syndrome
, was firstly reported by Jan van der Hoeve in 1916.
A gene for Waardenburg syndrome
type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.
type 2 caused by mutations in the human microphthalmia (MITF) gene.
Mutations in endothelin-ss- receptor gene (EDNRB) gene have been reported to cause Waardenburg syndrome
(WS4) in humans.
(18.) Tachibana M, Kobayashi Y, Matsushima Y: Mouse models for four types of Waardenburg syndrome
. Pigment Cell Res 2003;16:448-54.
Mutations in Sox 10 are associated with Waardenburg syndrome
, a rare inherited condition causing deafness and reduced hair, skin and eye pigment, and Hirschsprung's disease, which occurs as a result of incomplete development of nerves in the large intestine and leads to severe digestive problems.
In the case of retinitis pigmentosa, Duchenne muscular dystrophy, and Waardenburg syndrome
, a change in a gene results in the more broadly categorized disabilities of vision loss, limited mobility, and hearing loss, respectively.
The mother's deafness since birth was due to the genetic disorder Waardenburg syndrome
(WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation.