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Palpebral Fissures (palpebral + fissure)

Distribution by Scientific Domains

Life Sciences	50%

Selected Abstracts

Perioperative care of a patient with Beare,Stevenson syndrome

PEDIATRIC ANESTHESIA, Issue 12 2005
SARA UPMEYER DO
Summary Beare,Stevenson syndrome is a craniofacial syndrome consisting of a specific pattern of craniosynostosis resulting in a cloverleaf skull deformity and hydrocephalus, down-slanting palpebral fissures, proptosis, hypertelorism, strabismus, dysmorphic ears, choanal atresia, cleft palate, cutis gyratum, acanthosis nigricans, and abnormal genitalia. Its primary cause has been identified as a single amino acid substitution in fibroblast growth factor receptor 2. Of primary importance to the anesthesiologist are issues related to airway management resulting from midface hypoplasia, choanal atresia, and airway abnormalities (tracheal stenosis). Additional issues affecting airway management include associated cervical spine and foramen magnum abnormalities. The authors present their experience caring for a patient with Beare,Stevenson syndrome and discuss the anesthesia care of these patients. [source]

Difficult paediatric intubation when fibreoptic laryngoscopy fails

PEDIATRIC ANESTHESIA, Issue 9 2002
Agnes Ng
Summary We report an unusual problem with fibreoptic bronchoscopy in an 8-year-old girl with Negar syndrome. She had a history of difficult airway since birth, and had undergone mandibular distraction for severe obstructive sleep apnoea when she was aged 2 years. Nagar syndrome is a Treacher,Collins like syndrome with normal intelligence, conductive bone deafness and problems with articulation. The patients have malar hypoplasia with down slanting palpebral fissures, high nasal bridge, micrognathia, absence of lower eyelashes, low set posteriorly rotated ears, preauricular tags, atresia of external ear canal, cleft palate, hypoplasia of thumb, with or without radius, and limited elbow extension. Protracted attempts with a fibreoptic bronchoscope failed to visualize the glottis, and this was only possible when the tube was guided to the larynx by blind nasal intubation. Apparently, the healing of the wounds for the mandibular distraction in the mandibular space on the inside of the rami of the mandible had caused differential fibrosis on either side of the hyoid, leading to a triplane distortion of the larynx with a left shift, clockwise rotation to a 2,8 o'clock direction and a slight tilt towards the left pharyngeal wall. The large epiglottis overlying this had precluded a view of the larynx. Finally, the older technique of breathguided intubation facilitated fibreoptic bronchoscopy to achieve tracheal intubation. [source]

Septo-optic dysplasia as a manifestation of valproic acid embryopathy

BIRTH DEFECTS RESEARCH, Issue 2 2001
Carrie L. McMahon
Background The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central nervous system abnormalities, primarily neural tube defects. Optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously. Results We report on a woman who received Depakote (valproic acid) throughout her pregnancy for the treatment of a seizure disorder. The patient presented with features typical of valproic acid embryopathy, including bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly. MRI showed hypoplasia of the optic chiasm and absence of the septum pellucidum. Conclusions We report the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy. This case expands the clinical phenotype of valproate embryopathy. Teratology 64:83,86, 2001. © 2001 Wiley-Liss, Inc. [source]

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

CLINICAL GENETICS, Issue 5 2004
SJ Hassed
Fluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low-set posteriorly rotated ears, down-slanting palpebral fissures, mandibular micrognathia, and brachymesophalangia. Routine chromosome analysis identified no abnormality of chromosome 22; FISH analysis with the TUPLE1 probe disclosed an interstitial duplication of 22q11.2. FISH analysis did not reveal the duplication on the initial testing of metaphase chromosomes, although, on review, the area was brighter on one chromosome in each metaphase spread. FISH analysis of interphase cells showed three TUPLE1-probe sites with two chromosome-specific identification probes in each cell. Family history showed two older full siblings, a brother with behavior problems, oppositional defiant disorder, and learning problems and a sister with hydronephrosis and mild delays. The father and both siblings had similar facial features, and all three had the same interstitial duplication of the TUPLE1 probe. This family illustrates the novel complementary duplication syndrome of the velocardiofacial syndrome, which adds it to the expanding list of genomic deletion/duplication syndromes. The laboratory results further show the utility and need for careful analysis of interphase cells even in samples where good quality metaphases are available. [source]