Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature.
Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature.
Cleft Palate Craniofac J. 2021 Feb 12;:1055665621992654
Authors: Narimatsu K, Iida A, Kobayashi T
Abstract
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.
PMID: 33576275 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Narimatsu K, Iida A, Kobayashi T Tags: Cleft Palate Craniofac J Source Type: research