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

Autor: Narimatsu K; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan., Iida A; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan., Kobayashi T; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan.
Jazyk: angličtina
Zdroj: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2022 Jan; Vol. 59 (1), pp. 132-136. Date of Electronic Publication: 2021 Feb 12.
DOI: 10.1177/1055665621992654
Abstrakt: 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.
Databáze: MEDLINE