Lobar Holoprosencephaly with a Median Cleft: Case Report

2009 ◽  
Vol 46 (5) ◽  
pp. 549-554 ◽  
Author(s):  
Elżbieta Gawrych ◽  
Joanna Janiszewska-Olszowska ◽  
Anna Walecka ◽  
Maria Syryńska ◽  
Hanna Chojnacka
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Brain Abnormalities ◽  
Facial Deformity ◽  
Unique Case ◽  
Craniofacial Malformations ◽  
Live Births ◽  
Facial Defects ◽  
Median Cleft

Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months’ follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.

Midline Facial Defects with Hypertelorism and Low-Grade Astrocytoma: A Previously Undescribed Association

2006 ◽  
Vol 43 (6) ◽  
pp. 748-751 ◽  
Author(s):  
Silvyo David Araújo Giffoni ◽  
Fernando Cendes ◽  
Marcelo Valente ◽  
Vera Lucia Gil-da-Silva-Lopes
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Cleft Lip ◽  
Low Grade ◽  
Resonance Imaging ◽  
Facial Defects ◽  
Median Cleft

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

scholarly journals Median facial cleft syndrome: A case report

2021 ◽  
Vol 7 (2) ◽  
pp. 61-63
Author(s):  
Kaushik Bhattacharya ◽  
Aditya Shikar Bhattacharya ◽  
Neela Bhattacharya
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Upper Lip ◽  
Live Births ◽  
Facial Cleft ◽  
The Face ◽  
Median Cleft ◽  
Median Facial Cleft Syndrome ◽  
Congenital Cleft ◽  
Type 3

Congenital Cleft Lip and Palate is a common birth defect with an incidence of 1 in 600 to 800 live births. This defect usually affects either the left, right or in some cases both sides of the lip and is called a Tessier Type 3 cleft. Clefting of the face in the midline is exceedingly rare and such a case of a Median Facial Cleft Syndrome is being reported which occurs in nearly 1 in 1,000,000 live births. This was first described by Bechard in 1823 and can be sporadic or part of an inherited syndrome. The child had a median cleft of the upper lip, nose, and palate of a severe, complete variety, with absent philtrum of the upper lip, premaxilla, columella, nasal septum and vomer.

Skeletal and Dental Correction and Stability Following LeFort I Advancement in Patients With Cleft Lip and Palate With Mild, Moderate, and Severe Maxillary Hypoplasia

2021 ◽  
pp. 105566562199610
Author(s):  
Buddhathida Wangsrimongkol ◽  
Roberto L. Flores ◽  
David A. Staffenberg ◽  
Eduardo D. Rodriguez ◽  
Pradip. R. Shetye
Keyword(s):  
Retrospective Study ◽  
Outcome Measures ◽  
Cleft Lip ◽  
Outcome Measure ◽  
Cleft Lip And Palate ◽  
Inclusion Criteria ◽  
Maxillary Hypoplasia ◽  
Main Outcome Measure ◽  
Lateral Cephalograms

Objective: This study evaluates skeletal and dental outcomes of LeFort I advancement surgery in patients with cleft lip and palate (CLP) with varying degrees of maxillary skeletal hypoplasia. Design: Retrospective study. Method: Lateral cephalograms were digitized at preoperative (T1), immediately postoperative (T2), and 1-year follow-up (T3) and compared to untreated unaffected controls. Based on the severity of cleft maxillary hypoplasia, the sample was divided into 3 groups using Wits analysis: mild: ≤0 to ≥−5 mm; moderate: <−5 to >−10 mm; and severe: ≤−10 mm. Participants: Fifty-one patients with nonsyndromic CLP with hypoplastic maxilla who met inclusion criteria. Intervention: LeFort I advancement. Main Outcome Measure: Skeletal and dental stability post-LeFort I surgery at a 1-year follow-up. Results: At T2, LeFort I surgery produced an average correction of maxillary hypoplasia by 6.4 ± 0.6, 8.1 ± 0.4, and 10.7 ± 0.8 mm in the mild, moderate, and severe groups, respectively. There was a mean relapse of 1 to 1.5 mm observed in all groups. At T3, no statistically significant differences were observed between the surgical groups and controls at angle Sella, Nasion, A point (SNA), A point, Nasion, B point (ANB), and overjet outcome measures. Conclusions: LeFort I advancement produces a stable correction in mild, moderate, and severe skeletal maxillary hypoplasia. Overcorrection is recommended in all patients with CLP to compensate for the expected postsurgical skeletal relapse.

Repair of Giant Anterior Skull Base Encephalocele Containing Intralesional Eloquent Brain: Technical Note

2021 ◽  
Author(s):  
Andrew J Kobets ◽  
Richard J Redett ◽  
Jonathan M Walsh ◽  
Joseph Lopez ◽  
Melike Guryildirim ◽  
...  
Keyword(s):  
Airway Obstruction ◽  
Skull Base ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Neural Tissue ◽  
Anterior Skull Base ◽  
Csf Rhinorrhea ◽  
Hernia Sac ◽  
Live Births ◽  
Anterior Cranial Base

Abstract BACKGROUND Encephaloceles are herniations of intracranial neural tissue and meninges through defects in the skull. Basal encephaloceles are rare anterior skull base defects incident in 1 in 35,000 live births. Sphenoethmoidal encephaloceles are even more uncommon, with an incidence of 1 in 700,000 live births. Anterior skull base encephaloceles may be life-threatening in infants, presenting as airway obstruction and respiratory compromise. They can also present with cerebrospinal fluid (CSF) rhinorrhea, purulent nasal drainage, or meningitis. OBJECTIVE To report a novel technique for repairing a giant sphenoethmoidal encephalocele containing eloquent neural tissue. METHODS A 16-mo-old girl presented with progressive airway obstruction from a giant sphenoethmoidal encephalocele that filled her oral cavity. She had multiple congenital anomalies including agenesis of the corpus callosum and cleft lip and palate. Computed tomography showed complete absence of the bony anterior cranial base, and magnetic resonance imaging demonstrated the presence of the pituitary gland and hypothalamus in the hernia sac. RESULTS We repaired the encephalocele using a combined microsurgical and endoscopic multidisciplinary approach working through transcranial, transnasal, and transpalatal corridors. The procedure was completed in a single stage, during which the midline cleft lip was also repaired. The child made an excellent neurological and aesthetic recovery with preservation of pituitary and hypothalamic function, without evidence of CSF fistula. CONCLUSION The authors describe a novel multidisciplinary technique for treating a giant sphenoethmoidal encephalocele containing eloquent brain. The cleft lip was also repaired at the same time. The ability to work through multiple corridors can enhance the safety and efficacy of an often-treacherous operative endeavor.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic

2021 ◽  
pp. 105566562110698
Author(s):  
Kristaninta Bangun ◽  
Jessica Halim ◽  
Vika Tania
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Surgical Techniques ◽  
Chromosome 17 ◽  
Long Term Effects ◽  
Surgical Strategies ◽  
Increased Risk ◽  
The Cost

Chromosome 17 duplication is correlated with an increased risk of developmental delay, birth defects, and intellectual disability. Here, we reported a female patient with trisomy 17 on the whole short arm with bilateral complete cleft lip and palate (BCLP). This study will review the surgical strategies to reconstruct the protruding premaxillary segment, cleft lip, and palate in trisomy 17p patient. The patient had heterozygous pathogenic duplication of chromosomal region chr17:526-18777088 on almost the entire short arm of chromosome 17. Beside the commonly found features of trisomy 17p, the patient also presented with BCLP with a prominent premaxillary portion. Premaxillary setback surgery was first performed concomitantly with cheiloplasty. The ostectomy was performed posterior to the vomero-premaxillary suture (VPS). The premaxilla was firmly adhered to the lateral segment and the viability of philtral flap was not compromised. Two-flap palatoplasty with modified intravelar veloplasty (IVV) was performed 4 months after. Successful positioning of the premaxilla segment, satisfactory lip aesthetics, and vital palatal flap was obtained from premaxillary setback, primary cheiloplasty, and subsequent palatoplasty in our trisomy 17p patient presenting with BLCP. Postoperative premaxillary stability and patency of the philtral and palatal flap were achieved. Longer follow-up is needed to evaluate the long-term effects of our surgical techniques on inhibition of midfacial growth. However, the benefits that the patient received from the surgery in improving feeding capacity and facial appearance early in life outweigh the cost of possible maxillary retrusion.

Phonological Profile of Patients With Velopharyngeal Dysfunction and Palatal Anomalies

2021 ◽  
pp. 1-15
Author(s):  
Ariela Nachmani ◽  
Muhamed Masalha ◽  
Firas Kassem
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Age Groups ◽  
Phonological Process ◽  
Phonological Processes ◽  
Process Error ◽  
Submucous Cleft Palate ◽  
Different Types

Purpose This purpose of this study was to assess the frequency and types of phonological process errors in patients with velopharyngeal dysfunction (VPD) and the different types of palatal anomalies. Method A total of 808 nonsyndromic patients with VPD, who underwent follow-up at the Center for Cleft Palate and Craniofacial Anomalies, from 2000 to 2016 were included. Patients were stratified into four age groups and five subphenotypes of palatal anomalies: cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP. Phonological processes were compared among groups. Results The 808 patients ranged in age from 3 to 29 years, and 439 (54.3%) were male. Overall, 262/808 patients (32.4%) had phonological process errors; 80 (59.7%) ages 3–4 years, 98 (40, 0%) ages 4.1–6 years, 48 (24.7%) 6.1–9 years, and 36 (15.3%) 9.1–29 years. Devoicing was the most prevalent phonological process error, found in 97 patients (12%), followed by cluster reduction in 82 (10.1%), fronting in 66 (8.2%), stopping in 45 (5.6%), final consonant deletion in 43 (5.3%), backing in 30 (3.7%), and syllable deletion and onset deletion in 13 (1.6%) patients. No differences were found in devoicing errors between palatal anomalies, even with increasing age. Phonological processes were found in 61/138 (44.20%) with CP, 46/118 (38.1%) with SMCP, 61/188 (32.4%) with non-CP, 70/268 (26.1%) with OSMCP, and 25/96 (26.2%) with CLP. Phonological process errors were most frequent with CP and least with OSMCP ( p = .001). Conclusions Phonological process errors in nonsyndromic VPD patients remained relatively high in all age groups up to adulthood, regardless of the type of palatal anomaly. Our findings regarding the phonological skills of patients with palatal anomalies can help clarify the etiology of speech and sound disorders in VPD patients, and contribute to general phonetic and phonological studies.

Paracetamol Poisoning in Pregnancy: An Analysis of the Outcomes of Cases Referred to the Teratology Information Service of the National Poisons Information Service

1990 ◽  
Vol 9 (3) ◽  
pp. 147-153 ◽  
Author(s):  
P.R. McElhatton ◽  
F.M. Sullivan ◽  
G.N. Volans ◽  
R. Fitzpatrick
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Information Service ◽  
First Trimester ◽  
Paracetamol Overdose ◽  
Structural Development ◽  
Paracetamol Poisoning ◽  
Third Trimester ◽  
Neonatal Problems

A study was carried out to investigate the outcome of pregnancy in 115 women who had been exposed to paracetamol overdose. Follow up was obtained in 48 cases. Exposure occurred in all trimesters, and the most striking feature of this series is that the majority of the pregnancy outcomes were normal. None of the mothers died. There were 39 live born infants with no malformation, 14 of whom had been exposed in the first trimester. Four babies, exposed in the third trimester had neonatal problems, but these seem unrelated to paracetamol. There were two live born infants with gross malformations (spina bifida occulta; and cleft lip and palate). However, as the overdoses occurred at weeks 26 and 28 respectively, long after the structural development of these organs, the malformations could not have been caused by the paracetamol. There were two spontaneous abortions, both in the first trimester, which occurred two weeks after the overdose which may be related to the paracetamol. The overall conclusion is that paracetamol overdose per se is not necessarily an indication for termination of pregnancy.

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