TY - JOUR
T1 - Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
AU - Darmency-Stamboul, Véronique
AU - Burglen, Lydie
AU - Lopez, Estelle
AU - Mejean, Nathalie
AU - Dean, John
AU - Franco, Brunella
AU - Rodriguez, Diana
AU - Lacombe, Didier
AU - Desguerres, Isabelle
AU - Cormier-Daire, Valérie
AU - Doray, Bérénice
AU - Pasquier, Laurent
AU - Gonzales, Marie
AU - Pastore, Matthew
AU - Crenshaw, Melissa L.
AU - Huet, Frédéric
AU - Gigot, Nadège
AU - Aral, Bernard
AU - Callier, Patrick
AU - Faivre, Laurence
AU - Attié-Bitach, Tania
AU - Thauvin-Robinet, Christel
N1 - Funding Information:
The authors thank the General Counsil of Burgundy for its financial support, as well as the French GIS-Maladies rares grant, the French Ministry of Health PHRC 2010 (Programme Hospitalier de Recherche Clinique 2010-A01014-35 to CTR) and ANR 2010 (FOETOCILPATH N° BLAN 1122 01 to TAB).
PY - 2013/6
Y1 - 2013/6
N2 - Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neurological and radiological data of 6 additional OFD VI patients. All patients presented oral malformations, facial dysmorphism and distal abnormalities including frequent polydactyly (66%), as well as neurological symptoms with moderate to severe mental retardation. Contrary to historically reported patients, mesoaxial polydactyly did not appear to be a predominant clinical feature in OFD VI. Sequencing analyzes of the 14 genes implicated in JSRD up to 2011 revealed only an OFD1 frameshift mutation in one female OFD VI patient, strengthening the link between these two oral-facial-digital syndromes and JSRD.
AB - Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neurological and radiological data of 6 additional OFD VI patients. All patients presented oral malformations, facial dysmorphism and distal abnormalities including frequent polydactyly (66%), as well as neurological symptoms with moderate to severe mental retardation. Contrary to historically reported patients, mesoaxial polydactyly did not appear to be a predominant clinical feature in OFD VI. Sequencing analyzes of the 14 genes implicated in JSRD up to 2011 revealed only an OFD1 frameshift mutation in one female OFD VI patient, strengthening the link between these two oral-facial-digital syndromes and JSRD.
KW - Cerebellar malformation
KW - Joubert syndrome and related disorders
KW - Molar tooth sign
KW - OFD VI syndrome
KW - OFD1
KW - Oral-facial-digital syndrome
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U2 - 10.1016/j.ejmg.2013.03.004
DO - 10.1016/j.ejmg.2013.03.004
M3 - Article
C2 - 23523602
AN - SCOPUS:84878478697
SN - 1769-7212
VL - 56
SP - 301
EP - 308
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
ER -