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New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis.
Clin Dysmorphol. 2007 Apr; 16(2):85-8.CD

Abstract

The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described.

Authors+Show Affiliations

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17351350

Citation

Golbert, Marcelo B., et al. "New Clinical Findings in the Richieri-Costa/Pereira Type of Acrofacial Dysostosis." Clinical Dysmorphology, vol. 16, no. 2, 2007, pp. 85-8.
Golbert MB, Dewes LO, Philipsen VR, et al. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin Dysmorphol. 2007;16(2):85-8.
Golbert, M. B., Dewes, L. O., Philipsen, V. R., Wachholz, R. S., Deutschendorf, C., & Leite, J. C. (2007). New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clinical Dysmorphology, 16(2), 85-8.
Golbert MB, et al. New Clinical Findings in the Richieri-Costa/Pereira Type of Acrofacial Dysostosis. Clin Dysmorphol. 2007;16(2):85-8. PubMed PMID: 17351350.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. AU - Golbert,Marcelo B, AU - Dewes,Lucas O, AU - Philipsen,Viviane R, AU - Wachholz,Rebeca S, AU - Deutschendorf,Caroline, AU - Leite,Júlio C L, PY - 2007/3/14/pubmed PY - 2007/5/19/medline PY - 2007/3/14/entrez SP - 85 EP - 8 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 16 IS - 2 N2 - The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/17351350/New_clinical_findings_in_the_Richieri_Costa/Pereira_type_of_acrofacial_dysostosis_ L2 - https://doi.org/10.1097/MCD.0b013e3280464ff6 DB - PRIME DP - Unbound Medicine ER -