Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele

2012 ◽  
Vol 10 (1) ◽  
pp. 25-29 ◽  
Author(s):  
Timothy W. Vogel ◽  
Sunil Manjila ◽  
Alan R. Cohen
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ductus Arteriosus ◽  
Neurodevelopmental Disorder ◽  
Coarctation Of The Aorta ◽  
Chromosome Band ◽  
Genetic Syndromes ◽  
Neurological Outcomes

Giant occipitoparietal encephaloceles are rare forms of neurodevelopmental defects whose etiologies remain uncertain. Their occurrence can lead to variable neurological outcomes depending on the extent of cerebral cortex involved and the ability to repair the defect. In addition, encephaloceles may be associated with various genetic syndromes and familial inheritance. Here, the authors describe a unique constellation of malformations associated with the case of a giant occipitoparietal meningoencephalocele with herniation of cortical tissue and continuity with the ventricular system. The patient had a cleft lip and palate, hemivertebrae of the thoracic spine, a patent ductus arteriosus, a ventricular septal defect, and coarctation of the aorta. To identify the genetic underpinnings of these malformations, fluorescence in situ hybridization and microarray analysis were performed and revealed an 80.65-kb gain within chromosome band 2p11.2. Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation. Surgical repair and follow-up for the neurological malformations are also discussed.

Cleft Lip and Palate in Infants With Prenatal Opioid Exposure

2021 ◽  
pp. 105566562110118
Author(s):  
Olivia Langa ◽  
Alex T. Cappitelli ◽  
Ingrid M. Ganske
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Perioperative Complications ◽  
Demographic Data ◽  
Perioperative Outcomes ◽  
Medical Conditions ◽  
Genetic Syndromes ◽  
State Custody ◽  
Tertiary Center

Objective: This study examines phenotypic presentation and perioperative outcomes of cleft-related procedures for infants with cleft lip and/or palate (CL/P) and prenatal opioid exposure. Design: This is a retrospective review of infants with prenatal opioid exposure treated for CL/P from 2008 to 2018. Setting: Patients cared for at a tertiary center from 2008 to 2018. Patients/Participants: Eighteen patients with documented prenatal opioid exposure and CL/P had primary repairs in our unit. Main Outcome Measure(s): The phenotypes of CL/P were characterized. Demographic data regarding additional exposures, as well as associated medical and social comorbidities were recorded. Outcome variables included operative delays, perioperative complications, and loss of follow-up. Results: Isolated cleft palate (CP; 67%) was overrepresented among patients with prenatal opioid exposure and CL/P, as was Robin sequence (50% in isolated CP). Fifty-six percent had exposure to additional substances. A majority (67%) had other medical conditions or anomalies, and 17% had known genetic syndromes. Seventy-two percent were in state custody. Thirty-nine percent of exposed patients had delays in their planned operative dates due to medical and/or social factors. There were no postoperative readmissions following cleft procedures. Lack of follow-up was noted in 33% of patients. Conclusions: Infants with CL/P who have prenatal opioid exposure are likely to have additional medical conditions and complex social challenges.

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 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.

JOB LEWIS SMITH ON MATERNAL IMPRESSIONS AS A CAUSE OF CLEFT LIP AND PALATE (1890)

PEDIATRICS ◽  
1981 ◽  
Vol 68 (4) ◽  
pp. 483-483
Author(s):  
T. E. C.
Keyword(s):  
New York ◽  
Cleft Palate ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Seventh Edition ◽  
Pediatric Society ◽  
Firm Believer

Job Lewis Smith (1827-1897), a founder of the American Pediatric Society and who, with Abraham Jacobi, established pediatrics as a specialty in our country, was a firm believer that strong mental impressions during pregnancy might be a cause of congenital malformations. He gave the following explanation of the cause of cleft lip and palate in the seventh edition of his textbook, published in 1890.1 Mrs. D[unknown], Eighth avenue, New York, seven months before the birth of her child, when visiting at a distance, accidentally broke the plate of a full set of upper teeth. The line of fracture was antero-posterior and through the centre of the plate. Being away from home, she was much annoyed by the accident and retained the fragments of the plate in situ by pressure with the tongue. As she could not open her mouth without the plate falling out, except it was retained by pressure with the tongue, her mind was dwelling almost constantly on the accident during the few days of her visit. Her boy, born seven months subsequently, had a hare-lip and cleft palate. The mother stated that the deficiency in the lip and palate corresponded precisely to the location of the fracture in the plate.

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.

Oronasal Transfixion Suture to Prevent Uplifted Nasal Floor Deformity in Cleft Lip and Palate Patients: A 5-Year Follow-Up

2018 ◽  
Vol 56 (3) ◽  
pp. 390-394
Author(s):  
Yuta Nakajima ◽  
Shunsuke Yuzuriha ◽  
Fumio Nagai ◽  
Kenya Fujita ◽  
Masahiko Noguchi
Keyword(s):  
Private Practice ◽  
Cleft Lip ◽  
Chart Review ◽  
Outcome Measure ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
University Hospital ◽  
Nasal Floor ◽  
Orbicularis Oris Muscle

Objective: In unilateral cleft lip and palate, the reconstructed nasal floor is sometimes uplifted regardless of the reconstructive method used. We used a 5-0 absorbable anchoring suture, the oronasal transfixion suture (ONT suture), to fasten the reconstructed nasal floor to the orbicularis oris muscle to prevent this deformity. This study was performed to evaluate the effects of the ONT suture. Design: Blind retrospective study of photography and chart review. Setting: Shinshu University Hospital, tertiary care, Nagano, Japan. Private practice. Patients: Ninety-three consecutive patients with unilateral complete cleft lip and palate who had undergone primary nasolabial repair in our department and affiliated hospitals between 1999 and 2011 participated in this study. Finally, 45 patients were included. Interventions: The ONT suture was put in place at the time of primary nasolabial repair. Main Outcome Measure: The height of the nasal floor was evaluated on submental view photographs at 5 years old. Results: The ONT suture was applied in 21 patients. The height of the nasal floor on the cleft side was significantly closer to that on the noncleft side with the ONT suture than without the ONT suture ( P = .008). Conclusions: The ONT suture is effective to prevent uplifted nasal floor deformity on the cleft side// in unilateral complete cleft lip and palate at the time of primary nasolabial repair.

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