Search results for " Cleft Palate"
showing 9 items of 9 documents
Acoustic Airway Profiles in Unilateral Cleft Palate Patients
1999
Objective: This study investigates the nasal airway in unilateral cleft palate patients by means of a noninvasive, objective diagnostic method that provides topographic information about the airway profile. Design: A consecutive sample of patients was measured. Setting: Cleft palate rehabilitation center of the University of Mainz, Germany. Patients: Forty-nine subjects were investigated: 34 full-grown patients with complete unilateral cleft lip and palate and 15 controls with subjective normal nasal patency. Intervention: A transnasal series of three acoustic measurements of nasal volume was performed per nostril; measurements were taken both before and after decongestion with 0.3 mg xylom…
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020
Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
2002
A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…
CLEFT PALATE ONLY: CURRENT CONCEPTS
2017
Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO. In some cases of CPO a prevalent mode of inheritance has been reported, but oligogenic models with reduced penetrance,…
Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report.
2006
Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report. Pirrello R, Siragusa S, Giambona C, D'Arpa S, Cordova A, Moschella F. Source Dipartimento di Discipline Chirurgiche ed Oncologiche, Sezione di Chirurgia Plastica e Ricostruttiva, Università di Palermo, Palermo, Italy. Abstract The association between factor VII deficiency and cleft palate has never been described. The case of a child with cleft palate and factor VII deficiency who successfully underwent palatoplasty is described in this article. To allow surgical treatment, through maintenance of a normal prothrombin time, the patient was given 15 microg/kg of recombinant factor VIIa every 12 hours, …
Ēdināšanas problēmas zīdaiņiem ar iedzimtām patoloģijām sejas - žokļu rajonā
2015
Šajā darbā aprakstītas ēdināšanas problēmas ar kādām saskaras vecāki, kuri ēdina zīdaini ar iedzimtām patoloģijām sejas-žokļu rajonā. Darbs sastāv no divām daļām. Teorētiskajā daļā ir analizēta literatūra par zīdaiņu ar iedzimtām patoloģijām sejas-žokļu rajonā ēdināšanas īpatnībām. Darbs analizēts saistībā ar Kari Martinsenas un Betijas Ņūmenas māszinību teorijām. Praktiskajā daļā ir aprakstīta pētījuma gaita un analizēti iegūtie rezultāti. Pētījumam izvēlēta kvalitatīva pētniecības metode un izveidots pētniecības instruments - intervija. Par respondentiem atlasīti vecāki, kuri ēdina zīdaini vecumā no 2-24 mēnešiem. Pēc iegūto rezultātu un pieejamās literatūras analīzes ir izstrādātas rekom…
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies
2016
Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA).Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995–2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other …
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
2022
Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare, it is most often syndromic in etiology. Case presentation Clinical management of a female newborn with oromaxillofacial abnormities (synechiae, cleft palate, craniofacial dysmorphisms, dental anomaly) and extraoral malformations (skinfold overlying the nails of both halluces, syndactyly, abnormal external genitalia) is presented. The associated malformations addressed to molecular genetic invest…