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1.
Eur Rev Med Pharmacol Sci ; 27(5): 1971-1979, 2023 03.
Article in English | MEDLINE | ID: mdl-36930495

ABSTRACT

OBJECTIVE: There is no study that compares the diagnostic performance of ATV and ESV techniques in detecting cleft palate. We aimed to evaluate the diagnostic accuracy of two ultrasound techniques: axial-transverse (ATV) and "equal sign" view (ESV), in detecting fetal cleft palate without cleft lip. PATIENTS AND METHODS: This prospective study was conducted from March 2019 to January 2022 in a tertiary referral hospital. Secondary palates were assessed with ATV and ESV by two experienced fetal medicine specialists who were blinded to each other's ultrasound findings. Final diagnosis was done according to postnatal physical examination. The sensitivity and specificity of the two techniques were calculated. RESULTS: A total of 311 pregnancies which met the study criteria were evaluated. Postnatal physical examination showed that 13 (0.4%) neonates had cleft palate only (CPO). According to final diagnosis the sensitivity, specificity, positive predictive value and negative predictive value for ATV were 100%, 98.7%, 76.4%, 100% and 100% for ESV were 76.9%, 97.8%, 58.9% and 99%, respectively. CONCLUSIONS: ATV in 2D ultrasound provides higher sensitivity and specificity than ESV in detecting CPO.


Subject(s)
Cleft Lip , Cleft Palate , Pregnancy , Infant, Newborn , Female , Humans , Cleft Palate/diagnostic imaging , Cleft Lip/diagnostic imaging , Prospective Studies , Ultrasonography, Prenatal/methods , Ultrasonography
2.
Genet Couns ; 19(2): 193-8, 2008.
Article in English | MEDLINE | ID: mdl-18618994

ABSTRACT

Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.


Subject(s)
Abnormalities, Multiple , Radius/abnormalities , Synostosis , Ulna/abnormalities , Child , Female , Forearm/abnormalities , Humans , Intellectual Disability , Language Development Disorders , Male , Muscle Hypotonia , Siblings
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