Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

V Morán-Barroso; M Valdés Flores; R García-Cavazos; S Kofman-Alfaro; D Saavedra-Ontiveros

Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

Clin Dysmorphol. 1998 Jan;7(1):55-7.

Authors

V Morán-Barroso¹, M Valdés Flores, R García-Cavazos, S Kofman-Alfaro, D Saavedra-Ontiveros

Affiliation

¹ Servicio de Genética, Hospital General de México, SSa. Facultad de Medicina, UNAM, Mexico.

PMID: 9546832

Abstract

We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Cerebral Aqueduct / abnormalities
Cleft Lip / genetics
Cleft Palate / genetics
Heart Defects, Congenital / genetics
Humans
Infant, Newborn
Male
Meningomyelocele / genetics
Orofaciodigital Syndromes / classification
Orofaciodigital Syndromes / genetics*
Orofaciodigital Syndromes / pathology
Polydactyly / genetics
Tongue / abnormalities