Author/Authors
hakan, nilay mugla sitki kocaman üniversitesi - tip fakültesi - neonatoloji bilim dali, Mugla, turkey , çetinkaya, petek uzay mugla sitki kocaman üniversitesi - tip fakültesi - çocuk sagligi ve hastaliklari anabilim dali, Mugla, turkey , aydin, mustafa firat üniversitesi - tip fakültesi - neonatoloji bilim dali, Elazig, turkey
Title Of Article
A Newborn Case Diagnosed with Thanatophoric Dysplasia Type 1
شماره ركورد
28405
Abstract
Thanatophoric dysplasia is a lethal skeletal dysplasia manifested by short extremities which is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Characteristically, macrocephaly, narrow thorax, flattening in the vertebrae, bowing in the femur with short and flat extremities is seen. Herein, we present a case of thanatophoric dysplasia type 1 diagnosed by typical clinical and radiological findings, and FGFR3 gene analysis. The patient born at the 34th gestational week with a 2160 g birth weight was found to have macrocephaly, marked forehead, narrow thorax, curved and short extremities on physical examination. Skeletal X-rays showed platyspondyly in the vertebral corpus, short ribs and short long tubular bones. Molecular genetic analysis revealed a heterozygous p.R248C (c.742C T) mutation in the FGFR3 gene exon 7. Thanatophoric dysplasia should be considered in the differential diagnosis of cases with skeletal dysplasia.
From Page
191
NaturalLanguageKeyword
Thanatophoric dysplasia , skeletal dysplasia , mutation , fibroblast growth factor 3
JournalTitle
Fırat University Medical Journal Of Health Sciences
To Page
194
JournalTitle
Fırat University Medical Journal Of Health Sciences
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