Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia

Marc Z. Handler, Olamide Alabi, Jason J Miller

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation. Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory failure. This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis leading to need for intubation. In an effort to avoid a tracheostomy, the patient underwent bilateral internal mandibular osteodistraction on day 4 of life with a latency period of 0 days and a distraction at a rate of 2 mm/d for 10 days until a class 3 dental occlusion existed with 5 mm of overcorrection. In addition, the patient was born with choanal atresia that was repaired at day 30 of life. After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.

Original languageEnglish (US)
Pages (from-to)1417-1419
Number of pages3
JournalJournal of Craniofacial Surgery
Volume20
Issue number5
DOIs
StatePublished - Sep 1 2009

Fingerprint

Diamond-Blackfan Anemia
Mandibulofacial Dysostosis
Tracheostomy
Airway Obstruction
Craniofacial Abnormalities
Choanal Atresia
Macrocytic Anemia
Dental Occlusion
Ribosomal Proteins
Sleep Apnea Syndromes
Cleft Palate
Apnea
Tongue
Intubation
Respiratory Insufficiency
Pneumonia
Parturition
Growth
Genes

Keywords

  • Diamond-Blackfan anemia
  • Mandibular distraction osteogenesis
  • Mandibulofacial dysostosis
  • Treacher Collins syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Surgery

Cite this

Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. / Handler, Marc Z.; Alabi, Olamide; Miller, Jason J.

In: Journal of Craniofacial Surgery, Vol. 20, No. 5, 01.09.2009, p. 1417-1419.

Research output: Contribution to journalArticle

@article{7c7711153b594a7bbe97eb93bb38fcb4,
title = "Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia",
abstract = "Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation. Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory failure. This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis leading to need for intubation. In an effort to avoid a tracheostomy, the patient underwent bilateral internal mandibular osteodistraction on day 4 of life with a latency period of 0 days and a distraction at a rate of 2 mm/d for 10 days until a class 3 dental occlusion existed with 5 mm of overcorrection. In addition, the patient was born with choanal atresia that was repaired at day 30 of life. After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.",
keywords = "Diamond-Blackfan anemia, Mandibular distraction osteogenesis, Mandibulofacial dysostosis, Treacher Collins syndrome",
author = "Handler, {Marc Z.} and Olamide Alabi and Miller, {Jason J}",
year = "2009",
month = "9",
day = "1",
doi = "10.1097/SCS.0b013e3181aee34e",
language = "English (US)",
volume = "20",
pages = "1417--1419",
journal = "Journal of Craniofacial Surgery",
issn = "1049-2275",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia

AU - Handler, Marc Z.

AU - Alabi, Olamide

AU - Miller, Jason J

PY - 2009/9/1

Y1 - 2009/9/1

N2 - Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation. Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory failure. This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis leading to need for intubation. In an effort to avoid a tracheostomy, the patient underwent bilateral internal mandibular osteodistraction on day 4 of life with a latency period of 0 days and a distraction at a rate of 2 mm/d for 10 days until a class 3 dental occlusion existed with 5 mm of overcorrection. In addition, the patient was born with choanal atresia that was repaired at day 30 of life. After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.

AB - Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation. Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory failure. This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis leading to need for intubation. In an effort to avoid a tracheostomy, the patient underwent bilateral internal mandibular osteodistraction on day 4 of life with a latency period of 0 days and a distraction at a rate of 2 mm/d for 10 days until a class 3 dental occlusion existed with 5 mm of overcorrection. In addition, the patient was born with choanal atresia that was repaired at day 30 of life. After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.

KW - Diamond-Blackfan anemia

KW - Mandibular distraction osteogenesis

KW - Mandibulofacial dysostosis

KW - Treacher Collins syndrome

UR - http://www.scopus.com/inward/record.url?scp=70349676195&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=70349676195&partnerID=8YFLogxK

U2 - 10.1097/SCS.0b013e3181aee34e

DO - 10.1097/SCS.0b013e3181aee34e

M3 - Article

VL - 20

SP - 1417

EP - 1419

JO - Journal of Craniofacial Surgery

JF - Journal of Craniofacial Surgery

SN - 1049-2275

IS - 5

ER -