Síndrome de Waardenburg tipo I: relato de caso

Silva, Patricia Capua Vieira da; Rangel, Paula; Couto, Abelardo de Souza

doi:10.1590/s0004-27492011000300013

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…Besides the occurrence of cleft, it is characterized by the presence of the lower lip mucoceles or cysts and hypodontia [5,35,48,52]. Syndromic forms of orofacial clefts may be also noticed within other disorders, e.g., Pierre-Robin Sequence, Treacher-Collins Malformation, Trisomies 13 and 18, Apert's Syndrome, Stickler's Syndrome, and Waardenburg's Syndrome [53][54][55][56].…”

Section: Orofacial Cleft-clinical Features and Manifestationsmentioning

confidence: 99%

Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Jaruga

Ksiazkiewicz

Kuźniarz

et al. 2022

IJMS

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Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

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Section: Orofacial Cleft-clinical Features and Manifestationsmentioning

confidence: 99%

Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Jaruga

Ksiazkiewicz

Kuźniarz

et al. 2022

IJMS

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show abstract

“…Other severe malformations, such as cyclopia and synophthalmia, are rarely described and are usually not compatible with life. 4,5 Waardenburg syndrome appears to be associated with the defective migration of neural crest cells during the third month of pregnancy. These neural crest cells eventually give rise to melanocytes, sympathetic ganglia, sensory components of the cranial and spinal nerves, and membranous bones of the face and the palate, dentin, and visceral ganglia.…”

Section: Introductionmentioning

confidence: 99%

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies

Marta

Kawakami

Sgavioli

et al. 2016

The Journal of Contemporary Dental Practice

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Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

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Pax proteins in embryogenesis and their role in nervous system development

Namm

Arend

Aunapuu

2013

PoA

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The mammalian Pax genes encode a family of transcription factors, which play important roles in embryonic development and organogenesis. During the central nervous system development Pax genes have substantial roles in neural differentiation and regional specification. Pax proteins are expressed in populations of nerve cells within the developing forebrain, midbrain, hindbrain and spinal cord. In this article the fundamental roles of Pax proteins in the embryogenesis are outlined and the temporal and spatial influences of Pax on the formation of the central nervous system are discussed.

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Síndrome de Waardenburg tipo I: relato de caso

Cited by 3 publications

References 5 publications

Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies

Pax proteins in embryogenesis and their role in nervous system development

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