KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

2007 ◽  
Vol 143A (3) ◽  
pp. 292-300 ◽  
Author(s):  
K.L. Skjei ◽  
M.M. Martin ◽  
A.M. Slavotinek
Keyword(s):  
Diagnostic Criteria ◽  
Kbg Syndrome ◽  
Syndrome Report

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

2011 ◽  
Vol 155 (7) ◽  
pp. 1536-1545 ◽  
Author(s):  
Giuseppe Marangi ◽  
Stefania Ricciardi ◽  
Daniela Orteschi ◽  
Serena Lattante ◽  
Marina Murdolo ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria ◽  
Syndrome Report

Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria

1994 ◽  
Vol 52 (3) ◽  
pp. 302-307 ◽  
Author(s):  
M. Zollino ◽  
A. Battaglia ◽  
M. G. D'Avanzo ◽  
M. M. Della Bruna ◽  
R. Marini ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Kbg Syndrome

Clinical variability in KBG syndrome: Report of three unrelated families

2004 ◽  
Vol 131A (2) ◽  
pp. 150-154 ◽  
Author(s):  
Gustavo Henrique Boff Maegawa ◽  
Júlio Cesar Loguercio Leite ◽  
Têmis Maria Félix ◽  
Heraldo Luís Dias da Silveira ◽  
Heloísa Emília da Silveira
Keyword(s):  
Clinical Variability ◽  
Kbg Syndrome ◽  
Syndrome Report

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature

2017 ◽  
Vol 103 ◽  
pp. 109-112 ◽  
Author(s):  
Pier Marco Bianchi ◽  
Alessandra Bianchi ◽  
Maria Cristina Digilio ◽  
Filippo Maria Tucci ◽  
Emanuela Sitzia ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Review Of The Literature ◽  
Kbg Syndrome ◽  
Syndrome Report

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

2008 ◽  
Vol 146A (10) ◽  
pp. 1299-1306 ◽  
Author(s):  
Anna M. Lehman ◽  
Deborah McFadden ◽  
Denise Pugash ◽  
Karan Sangha ◽  
William T. Gibson ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Splenopancreatic Fusion ◽  
Syndrome Report

An adrenocortical oncocytoma with unusual mitochondrial inclusions and cytoplasmic crystals

1994 ◽  
Vol 52 ◽  
pp. 250-251
Author(s):  
W.T. Gunning ◽  
G.D. Haselhuhn ◽  
E.R. Phillips ◽  
S.H. Selman
Keyword(s):  
Adrenal Gland ◽  
Salivary Glands ◽  
Mitotic Activity ◽  
Diagnostic Criteria ◽  
Vascular Invasion ◽  
Benign Neoplasm ◽  
Benign Tumors ◽  
Nuclear Morphology ◽  
Case Presentation ◽  
Microscopic Evidence

Within the last few years, adrenal cortical tumors with features concordant with the diagnostic criteria attributed to oncocytomas have been reported. To date, only nine reported cases exist in the literature. This report is the tenth case presentation of a presumptively benign neoplasm of the adrenal gland with a rare differentiation. Oncocytomas are well recognized benign tumors of the thyroid, parathyroid, and salivary glands and of the kidney. Other organs also give rise to these types of tumors, however with less frequency than the former sites. The characteristics generally used to classify a tumor as an oncocytoma include the following criteria: the tumor is 1) usually a solitary circumscribed mass with no gross nor microscopic evidence of metastasis (no tissue nor vascular invasion), 2) fairly bland in terms of mitotic activity and nuclear morphology, and 3) composed of large eosinophillic cells in which the cytoplasm is packed full of mitochondria (Figure 1).

An Introductory Examination of Speech Disfluencies in Spanish–English Bilingual Children Who Do and Do Not Stutter During Narratives

2020 ◽  
Vol 5 (1) ◽  
pp. 131-141
Author(s):  
Cristina Rincon ◽  
Kia Noelle Johnson ◽  
Courtney Byrd
Keyword(s):  
Diagnostic Criteria ◽  
Preliminary Data ◽  
Diagnostic Information ◽  
English Speakers ◽  
Bilingual Children ◽  
English Bilingual ◽  
Developmental Stuttering ◽  
Mean Length Of Utterance

Purpose The purpose of this study is to examine the frequency and type of speech disfluencies (stuttering-like and nonstuttering-like) in bilingual Spanish–English (SE) children who stutter (CWS) to SE children who do not stutter (CWNS) during narrative samples elicited in Spanish and English to provide further diagnostic information for this population and preliminary data toward an expansion of this study. Method Participants included six bilingual SE children (three CWS, three CWNS) ranging in age from 5 years to 7;5 (years;months) and recruited from the surrounding Houston, Texas area. Participants provided a narrative sample in English and Spanish. The frequency of speech disfluencies was tabulated, and mean length of utterance was measured for each sample. Results Results indicate that both talker groups exceed the diagnostic criteria typically used for developmental stuttering. Regardless of the language being spoken, CWS participants had a frequency of stuttering-like speech disfluencies that met or exceeded the diagnostic criteria for developmental stuttering that is based on monolingual English speakers. The CWNS participants varied in meeting the criteria depending on the language being spoken, with one of the three CWNS exceeding the criteria in both languages and one exceeding the criteria for percentage of stuttering-like speech disfluencies in one language. Conclusion Findings from this study contribute to the development of more appropriate diagnostic criteria for bilingual SE-speaking children to aid in the reduction of misdiagnoses of stuttering in this population.

1278: The Role of Diagnostic Criteria of Obstruction in Patients with High Grade Cystocele: Correlation to Subjective Symptoms

2007 ◽  
Vol 177 (4S) ◽  
pp. 421-421
Author(s):  
Veronica Triaca ◽  
Christian O. Twiss ◽  
Ramdev Konijeti ◽  
Larissa V. Rodriguez ◽  
Shlomo Raz
Keyword(s):  
Diagnostic Criteria ◽  
High Grade ◽  
Subjective Symptoms
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