Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

DM McDonald-McGinn, KE Sullivan - Medicine, 2011 - journals.lww.com
Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

[HTML][HTML] Update on 13 syndromes affecting craniofacial and dental structures

TN Bartzela, C Carels, JC Maltha - Frontiers in physiology, 2017 - frontiersin.org
Care of individuals with syndromes affecting craniofacial and dental structures are mostly
treated by an interdisciplinary team from early childhood on. In addition to medical and …

[HTML][HTML] Hard to swallow: developmental biological insights into pediatric dysphagia

AS LaMantia, SA Moody, TM Maynard… - Developmental …, 2016 - Elsevier
Pediatric dysphagia—feeding and swallowing difficulties that begin at birth, last throughout
childhood, and continue into maturity—is one of the most common, least understood …

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11. 2 deletion syndrome: An MRI analysis

L Kollara, AL Baylis, RE Kirschner, DG Bates… - Journal of Plastic …, 2021 - Elsevier
There are limited MRI studies of craniofacial and velopharyngeal features in children with
22q11. 2 deletion syndrome (22q11. 2DS) and to date, none have explored the potential …

Impact of cranial base abnormalities on cerebellar volume and the velopharynx in 22q11. 2 deletion syndrome

AE Haenssler, A Baylis, JL Perry… - The Cleft Palate …, 2020 - journals.sagepub.com
Objective: The purpose of this study was to analyze the relationship between cranial base,
cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11. 2 …

[HTML][HTML] Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

SO Akintoye, AO Adisa, CU Okwuosa, M Mupparapu - Bone Reports, 2024 - Elsevier
There is a wide spectrum of craniofacial bone disorders and dysplasias because
embryological development of the craniofacial region is complex. Classification of …

Cervical spine abnormalities in 22q11. 2 deletion syndrome

M Hamidi, S Nabi, M Husein… - The Cleft Palate …, 2014 - journals.sagepub.com
Objective The 22q11. 2 deletion syndrome is among the most common head-and-neck–
related syndromes. The literature has examined many of the phenotypic features of 22q11. 2 …

[HTML][HTML] Evaluation of the effect of palatoplasty on the quality of life and speech outcomes in patients with velocardiofacial syndrome

R Habibagahi, HR Fallahi, N Neghabian… - Dental and Medical …, 2024 - dmp.umw.edu.pl
Background. Children diagnosed with velocardiofacial syndrome (VCFS) suffer from various
disabilities. Palatal abnormalities, as well as speech and language impairment, adversely …

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

M Mupparapu - Bone Reports, 2024 - repository.upenn.edu
There is a wide spectrum of craniofacial bone disorders and dysplasias because
embryological development of the craniofacial region is complex. Classification of …

[HTML][HTML] Platybasia in 22q11. 2 deletion syndrome is not correlated with speech resonance

NE Spruijt, M Kon… - Archives of plastic …, 2014 - thieme-connect.com
Background An abnormally obtuse cranial base angle, also known as platybasia, is a
common finding in patients with 22q11. 2 deletion syndrome (22q11DS). Platybasia …