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Dental Arch Relationships of Saudi Children with Unilateral Cleft Lip and Palate

Alforaidi S, Zreaqat M, Hassan R

J Contemp Dent Pract, 2023 Dec 01;24(12):987-990.
PMID: 38317397 DOI: 10.5005/jp-journals-10024-3606

AIM: To determine dental arch relationships of Saudi children born with nonsyndromic complete unilateral cleft lip and palate (UCLP).
MATERIAL AND METHODS: This is a retrospective cohort study that comprised dental study models of 74 UCLP Saudi children aged 8-10 years who were recruited from 14 referral cleft centers. All participants had their cleft lip and palate repaired with no history of alveolar bone graft or any orthodontic treatment. Dental arch relationships of UCLP patients were assessed using the Great Ormond Street, London, and Oslo (GOSLON) Yardstick-a clinical tool that categorizes dental relationships of UCLP children into five discrete grades from I to V. The reliability of the rating was assessed with weighted kappa (κ) statistics.
RESULTS: Three children (4.1%) had excellent surgical outcomes (grade I), 18 children (24.3%) filled into grade II (good outcome), 22 subjects (29.7%) had grade III (fair outcome), 27 children (36.5%) had grade IV (poor outcome), and 4 subjects (5.4%) were ranked as having very poor outcomes (grade V). The mean GOSLON score was 3.39. Intrarater and interrater agreements were high indicating good reproducibility.
CONCLUSION: Based on the dental arch relationships, the treatment outcome of UCLP Saudi children was unsatisfactory, with a mean GOSLON score of 3.39. Delayed palate repair and the use of presurgical orthopedics may be considered in the future for cleft deformity management.
CLINICAL SIGNIFICANCE: To address the effect of particular cleft surgical protocol on dental arch relationships of UCLP patients. How to cite this article: Alforaidi S, Zreaqat M, Hassan R. Dental Arch Relationships of Saudi Children with Unilateral Cleft Lip and Palate. J Contemp Dent Pract 2023;24(12):987-990.

Matched MeSH terms: Brain/abnormalities*
Fulltext A case of Dandy Walker cyst with porencephaly

Ramasamy SP, Chandrasekaran S, Jayakumar CR, Mallick AS

Singapore Med J, 1992 Apr;33(2):196-7.
PMID: 1621130

A 27-year-old gravida two para one mother delivered a term male baby by caesarean section. The baby was referred for enlarged head. This neonate with large head was found to have Porencephalic cyst with dilated Triventricular system. There was a posterior fossa cyst communicating with fourth ventricle. A diagnosis of Dandy Walker Cyst with Porencephaly was made. Ventriculo-Peritoneal shunt was done on the ninth day of life. The baby had an uneventful postoperative period and was subsequently discharged.

Matched MeSH terms: Brain/abnormalities*
GRIN2D variants in three cases of developmental and epileptic encephalopathy

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, et al.

Clin Genet, 2018 12;94(6):538-547.
PMID: 30280376 DOI: 10.1111/cge.13454

N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors.

Matched MeSH terms: Brain/abnormalities
Fulltext ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, et al.

Cell Death Differ, 2016 Dec;23(12):1973-1984.
PMID: 27447114 DOI: 10.1038/cdd.2016.76

Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities.

Matched MeSH terms: Brain/abnormalities
Fulltext Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population

Mohamad Shah NS, Salahshourifar I, Sulong S, Wan Sulaiman WA, Halim AS

BMC Genet, 2016 Feb 11;17:39.
PMID: 26868259 DOI: 10.1186/s12863-016-0345-x

BACKGROUND: Nonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family pedigrees. Candidate genes associated with the condition were identified from large extended families from the Malay population.
RESULTS: A significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.
CONCLUSIONS: We have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.

Matched MeSH terms: Brain/abnormalities*