Pierre Robin Syndrome
Mostrando 1-9 de 9 artigos, teses e dissertações.
-
1. Síndrome de Pierre Robin associada à Síndrome de Duane familiar do tipo III
Resumo A síndrome de Pierre Robin (PRS) consiste em uma tríade de anomalias caracterizada por micrognatia, glossoptose e fissura de palato, comumente associada com outras síndromes e ocasionalmente com alterações oculares. Na Síndrome de Duane (DRS), há uma falha na inervação do reto lateral pelo VI nervo, com inervação anômala do reto lateral po
Rev. bras.oftalmol.. Publicado em: 2019-02
-
2. Nasalidade de crianças com sequência de Robin após palatoplastia primária com as técnicas de Furlow ou von Langenbeck / Nasality in children with Robin sequence after primary palatoplasty with Furlow or von Langenbeck procedures
Objetivo: O objetivo deste estudo foi comparar nasalidade de fala em crianças com sequência de Robin isolada, operadas pela técnica de palatoplastia de Furlow, com a fala de crianças operadas pela técnica de von Langenbeck. Modelo: Estudo prospectivo. Local de execução: Setor de Fonoaudiologia e Laboratório de Fonética do Hospital de Reabilitação
Publicado em: 2009
-
3. Assessment of self-care capacity of infant caretakers with Robin Sequence / Avaliação da capacidade de cuidadores de lactentes com Seqüência de Robin
Objetivos: Utilizando-se o referencial Teórico do autocuidado de Dorothea Orem o estudo tem como objetivo: avaliar a capacidade de autocuidado do agente de autocuidado (AAC) de lactentes com Seqüência de Robin isolada (SRI), quanto à manipulação e o tempo que o AAC levou para adquirir a capacidade de cuidados com a intubação nasofaríngea (INF); sond
Publicado em: 2008
-
4. Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.
A case of cleft palate and accessory metacarpal of index finger syndrome is described and related to the presence of Pierre Robin syndrome in a stillborn sibling. The significance of this relationship is discussed.
-
5. The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis,
-
6. Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. Cerebral involvement was evident in two of the patients who had suffered perinatal asphyxia. The presence of the syndrome in all four
-
7. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and other systemic manifestations (hearing loss, cleft palate, epiphyseal dysplasia, and premature osteoarthritis). As with other dominantly inherited conditions, the clinical phenotype of Stickler syndrome varies considerably. To date
-
8. Distichiasis: management with cryotherapy to the posterior lamella.
Distichiasis is the congenital condition of partial or complete accessory rows of eyelashes which exit from the posterior lid margin at or near the meibomian gland orifices. A series of 24 patients with distichiasis is presented with clinical features and results of treatment. The treatment modes of epilation, lid margin cryotherapy, or eyelid splitting cryo
-
9. Diaphragmatic hernia in the south-west of England.
A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilater