Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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Subject: search.filters.subject.developmental delay

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    3q29 Microdeletion Syndrome Associated with Developmental Delay and Pulmonary Stenosis: A Case Report
    (2022) Kaba, Duygu; celik, Zerrin Yilmaz; 36305444
    Background. 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.Case. A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.Conclusions. In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.
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    Screening results of psychomotor development of children at inpatient unit of a training hospital in Turkey
    (2019) Kutuk, Meryem Ozlem; Gokcen, Cem; Aksu, Gulen Guler; Akin, Fatih; Kardas, Aysenur; Sarp, Ayse Sevde; Tufan, Ali Evren
    Purpose: This study aimed to assess the psychomotor development of inpatient children in the pediatrics clinic and referring the children who have problems. Materials and Methods: Four hundred twenty children between 4-72 months at inpatient unit of the department of Pediatrics at Konya State Research hospital were included in the present study. A child development specialist who was unaware of the history and neurological examination of the cases administered Denver developmental screening test (DDST) II to all children once. Children who were found to be abnormal or questionable were further evaluated by the child and adolescent psychiatrist. Results: Three hundred forty five (82%) were found to be 'normal', 12 (2.8%) were found to be 'questionable' and 64 (15.2%) cases were found to be 'abnormal' with regard to DDST II. Post evaluation of questionable and abnormal cases by the child and adolescent psychiatrist, 26 cases were referred to special education institutions with the diagnosis of global developmental delay and 2 cases with the diagnosis of pervasive developmental disorder. Conclusion: It is important to apply screening tests for developmental evaluation to each child at inpatient pediatric clinics in order to diagnose developmental delays earlier.