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Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn

Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal...

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Autores principales: AlMatrafi, Faisal Rashed, Al-Shammari, Ahmad Ayed, Al Nefily, Raed Mohamed, AlAnazi, Rawan Abdulrahman, Abdulwahab, Abdulrahman Hamed, Ammar, Ahmed Sabry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102527/
https://www.ncbi.nlm.nih.gov/pubmed/37063682
http://dx.doi.org/10.3389/fped.2023.1142950
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author AlMatrafi, Faisal Rashed
Al-Shammari, Ahmad Ayed
Al Nefily, Raed Mohamed
AlAnazi, Rawan Abdulrahman
Abdulwahab, Abdulrahman Hamed
Ammar, Ahmed Sabry
author_facet AlMatrafi, Faisal Rashed
Al-Shammari, Ahmad Ayed
Al Nefily, Raed Mohamed
AlAnazi, Rawan Abdulrahman
Abdulwahab, Abdulrahman Hamed
Ammar, Ahmed Sabry
author_sort AlMatrafi, Faisal Rashed
collection PubMed
description Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention.
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spelling pubmed-101025272023-04-15 Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn AlMatrafi, Faisal Rashed Al-Shammari, Ahmad Ayed Al Nefily, Raed Mohamed AlAnazi, Rawan Abdulrahman Abdulwahab, Abdulrahman Hamed Ammar, Ahmed Sabry Front Pediatr Pediatrics Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention. Frontiers Media S.A. 2023-03-31 /pmc/articles/PMC10102527/ /pubmed/37063682 http://dx.doi.org/10.3389/fped.2023.1142950 Text en © 2023 AlMatrafi, Al-Shammari, Al-Nefily, AlAnazi, Abdulwahab and Ammar. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
AlMatrafi, Faisal Rashed
Al-Shammari, Ahmad Ayed
Al Nefily, Raed Mohamed
AlAnazi, Rawan Abdulrahman
Abdulwahab, Abdulrahman Hamed
Ammar, Ahmed Sabry
Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title_full Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title_fullStr Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title_full_unstemmed Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title_short Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
title_sort case report: aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102527/
https://www.ncbi.nlm.nih.gov/pubmed/37063682
http://dx.doi.org/10.3389/fped.2023.1142950
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