Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature

Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fis...

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Bibliographic Details
Published in:The Cleft palate-craniofacial journal 2022-01, Vol.59 (1), p.132-136
Main Authors: Narimatsu, Kaya, Iida, Akihiko, Kobayashi, Takanori
Format: Article
Language:English
Subjects:
Birth defects
Campomelic Dysplasia - diagnostic imaging
Campomelic Dysplasia - surgery
Cleft Palate - surgery
Disorders of Sex Development
Genetic disorders
Humans
Infant
Literature reviews
Palate, Soft - surgery
Reconstructive Surgical Procedures
Retrospective Studies
Skeletal system
Surgery
Treatment Outcome
Velopharyngeal Insufficiency
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Description
Summary:Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.
ISSN:1055-6656
1545-1569
DOI:10.1177/1055665621992654