Introduction: Waardenburg syndrome (SW) is a rare genetic disorder with an incidence of 1 per 40,000inhabitants. It is caused by mutations in multiple genes; these genetic alterations cause abnormalities in thedevelopment of tissues derived from neural crest cells and produce characteristic phenotypic findings such as light blue irises or iris heterochromia, poliosis, sensorineural deafness, among others. Objective: Describe a clinical case of Waardenburg Syndrome Material and methods: Descriptive, retrospective study, presentation of a clinical case. Results: We present a clinical case of a 3-year-old male pre-schooler with a family history: paternalgrandfather, father and paternal brother with a probable genetic history of SW. The importa...
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder chara...
Goldenhar syndrome is the second most frequent craniofacial malformation; occur sporadically or as a...
Made available in DSpace on 2016-08-10T10:39:06Z (GMT). No. of bitstreams: 1 Damiana Mirian da Cruz ...
Introduction: Waardenburg’s syndrome is a rare, hereditary entity which presents heterochromia of th...
Introduction: Waardenburg's syndrome is a rare entity, having a certain degree of disability when se...
El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por ...
Introduction: Prader-Willi syndrome is a genetic disorder caused by deleted or unexpressed genes con...
A síndrome de Waardenburg (SW) é caracterizada por perda auditiva ou surdez e alterações pigmentares...
Introduction: Noonan syndrome (NS) is a genetic disorder of autosomal dominant inheritance. It is ch...
Introduction: epilepsy occupies the second place among neurological diseases in childhood and it pro...
Introducción: la hipoacusia neurosensorial es uno de los síntomas principales del síndrome de Waard...
Introduction : Le syndrome de Waardenburg-Shah (SWS) est une neurocristopathie caractérisée par l'as...
Introduction: Schaaf Yang Syndrome (SHFYNG) is a multisystemic disorder characterizedby a group of s...
AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical an...
Klingmuller made the first description of two brothers with this dysmorphic pattern in 1956 and it w...
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder chara...
Goldenhar syndrome is the second most frequent craniofacial malformation; occur sporadically or as a...
Made available in DSpace on 2016-08-10T10:39:06Z (GMT). No. of bitstreams: 1 Damiana Mirian da Cruz ...
Introduction: Waardenburg’s syndrome is a rare, hereditary entity which presents heterochromia of th...
Introduction: Waardenburg's syndrome is a rare entity, having a certain degree of disability when se...
El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por ...
Introduction: Prader-Willi syndrome is a genetic disorder caused by deleted or unexpressed genes con...
A síndrome de Waardenburg (SW) é caracterizada por perda auditiva ou surdez e alterações pigmentares...
Introduction: Noonan syndrome (NS) is a genetic disorder of autosomal dominant inheritance. It is ch...
Introduction: epilepsy occupies the second place among neurological diseases in childhood and it pro...
Introducción: la hipoacusia neurosensorial es uno de los síntomas principales del síndrome de Waard...
Introduction : Le syndrome de Waardenburg-Shah (SWS) est une neurocristopathie caractérisée par l'as...
Introduction: Schaaf Yang Syndrome (SHFYNG) is a multisystemic disorder characterizedby a group of s...
AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical an...
Klingmuller made the first description of two brothers with this dysmorphic pattern in 1956 and it w...
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder chara...
Goldenhar syndrome is the second most frequent craniofacial malformation; occur sporadically or as a...
Made available in DSpace on 2016-08-10T10:39:06Z (GMT). No. of bitstreams: 1 Damiana Mirian da Cruz ...