22q13. 3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

K Cusmano‐Ozog, MA Manning… - American Journal of …, 2007 - Wiley Online Library
Abstract The 22q13. 3 deletion syndrome is a recognizable malformation syndrome
associated with developmental delay, hypotonia, delayed or absent speech, autistic‐like …

Surgical management of velopharyngeal dysfunction

RE Kirschner, RE Kirschner, RE Kirschner… - Cleft Lip and Palate …, 2012 - Springer
Successful surgical management of velopharyngeal dysfunction (VPD) depends upon
precise diagnosis and careful selection of operative technique. Because of the complex …

[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 …

Patient and surgical factors that affect the development of velopharyngeal insufficiency

K Garland, A Dworschak-Stokan, D Matic - Journal of Plastic …, 2022 - Elsevier
Velopharyngeal insufficiency (VPI) is a complication that occurs following cleft palate (CP)
repair, and the patient/surgical factors that contribute to the development of VPI have not …

22q11 chromosome abnormalities and the cleft service

N Nugent, A McGillivary, MJ Earley - Journal of plastic, reconstructive & …, 2010 - Elsevier
Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate.
These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with …

Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym

PD TURNPENNY, RW Pigott - Journal of medical genetics, 2001 - jmg.bmj.com
E ditor—Time may be closing on use of the acronym “CATCH22” for “deletion 22q11
syndrome”, 1 but it is likely to be a good while before it has finally run out. Many will prefer to …

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients

N Mizue Kokitsu-Nakata… - The Cleft palate …, 2008 - journals.sagepub.com
Objective: To report on two Brazilian patients with chromosome 22q11 deletion who
presented with velopharyngeal insufficiency, congenital heart anomalies, developmental …

[PDF][PDF] 18q22. 3→ 18q23 deletion syndrome and cleft palate

JD Eudy, DL Pickering, R Lutz, K Platt… - American Journal of …, 2010 - academia.edu
The 18q22! qter deletion syndrome was first described by De Grouchy et al.[1964]. Multiple
congenital anomalies known to be associated with the syndrome include microcephaly …

Speech outcomes after sphincter pharyngoplasty for velopharyngeal insufficiency

AS Lam, EM Kirkham, JP Dahl, SL Kinter… - The …, 2021 - Wiley Online Library
Objectives/Hypothesis To investigate perceptual speech outcomes following sphincter
pharyngoplasty (SP) and to identify patient characteristics associated with velopharyngeal …

Examining a new method to studying velopharyngeal structures in a child with 22q11. 2 deletion syndrome

L Kollara, G Schenck, M Jaskolka, JL Perry - Journal of Speech, Language …, 2017 - ASHA
Purpose To date, no studies have imaged the velopharynx in children with 22q11. 2 deletion
syndrome (22q11. 2 DS) without the use of sedation. Dysmorphology in velopharyngeal …