[MIM 268 305]

Very rare. Very likely autosomal recessive inheritance. Described in some Brazilian families and one case in France.

Association of:

-        Robin sequence: micrognathia and microstomia

-        short stature

-        pre- and postaxial hand anomalies (thumb hypoplasia)

-    prominent and low set ears

-        cleft mandible (XRay), resulting in the absence of the lower incisors

-        frequent abnormalities of the larynx which is round and small with an absent or hypoplastic epiglottis and hypertrophied aryepiglottic folds; hoarse voice

Occasionally: clubfoot.

Anesthetic implications:

difficult intubation

References : 

-        Favaro FP, Zechi-Ceide RM, Alvarez CW et al. 
Richieri-Costa Pereira syndrome a unique acrofacial dysostosis type. An overview of Brazilian cases. 
Am J Med Genet A 2011; 155A: 322-31.

-         Tobith A Jr, Bento-Goncalvez CGA. 
Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis 
Am J Med Genet A 2003; 122A: 133-8.

Updated: October 2018