THANATOPHORIC DYSPLASIA IN NEWBORN TWINS: CASE REPORT AND LITERATURE REVIEW

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MAFINEZHAD SHAHIN; BOZORGNIA YASAMAN; GHARAEE REZA

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Paper Information

Journal: IRANIAN JOURNAL OF NEONATOLOGY Year:2012 | Volume:1 | Issue:3 Page(s): 36-38

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Information Journal Paper

Title

THANATOPHORIC DYSPLASIA IN NEWBORN TWINS: CASE REPORT AND LITERATURE REVIEW

Author(s)

MAFINEZHAD SHAHIN | BOZORGNIA YASAMAN | GHARAEE REZA | Issue Writer Certificate

Keywords

THANATOPHORIC DYSPLASIAQ3

NEWBORNQ3

TWINSQ3

Abstract

THANATOPHORIC DYSPLASIA (TD) is an osteochondrodysplasia always lethal in the neonatal period. The vast majority of cases are due to de novo mutations. It is divided into two types: a short curved femur characterizes type 1, while a straighter femur with clover leaf skull characterizes type 2. In THANATOPHORIC DYSPLASIA the limbs are very short. The rib cage is small. The vertebral bodies of the spine are greatly reduced in height with wide spaces between them. Autosomal dominant mutations in the fibroblast growth factor receptor 3 gene (FGFR3), which has been mapped to chromosome band 4p16.3, results in both subtypes. This condition has characteristic sonographic features that suggest the diagnosis prenatally. Thanatophoric fetuses usually die within the first 48 hours of life from pulmonary hypoplasia caused by a narrow thorax, leading to respiratory insufficiency. We reported twin dizygote cases of type 1 TD with similar findings adjusting with TD for the first time, along with a short review of the available literature.

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APA: Copy

MAFINEZHAD, SHAHIN, BOZORGNIA, YASAMAN, & GHARAEE, REZA. (2012). THANATOPHORIC DYSPLASIA IN NEWBORN TWINS: CASE REPORT AND LITERATURE REVIEW. IRANIAN JOURNAL OF NEONATOLOGY, 1(3), 36-38. SID. https://sid.ir/paper/223856/en

Vancouver: Copy

MAFINEZHAD SHAHIN, BOZORGNIA YASAMAN, GHARAEE REZA. THANATOPHORIC DYSPLASIA IN NEWBORN TWINS: CASE REPORT AND LITERATURE REVIEW. IRANIAN JOURNAL OF NEONATOLOGY[Internet]. 2012;1(3):36-38. Available from: https://sid.ir/paper/223856/en

IEEE: Copy

SHAHIN MAFINEZHAD, YASAMAN BOZORGNIA, and REZA GHARAEE, “THANATOPHORIC DYSPLASIA IN NEWBORN TWINS: CASE REPORT AND LITERATURE REVIEW,” IRANIAN JOURNAL OF NEONATOLOGY, vol. 1, no. 3, pp. 36–38, 2012, [Online]. Available: https://sid.ir/paper/223856/en

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