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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.


Kaya Narimatsu, Akihiko Iida, Takanori Kobayashi. Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2022 Jan;59(1):132-136

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PMID: 33576275

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