EEC syndrome sans clefting: variable clinical presentations in a family.

Simple item page
dc.contributor.authorThakkar, Sejalen_US
dc.contributor.authorMarfatia, Yogeshen_US
dc.date.accessioned2009-05-28T08:42:56Z
dc.date.available2009-05-28T08:42:56Z
dc.date.issued2007-01-23en_US
dc.description.abstractEctrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.en_US
dc.description.affiliationDepartment of Dermatology, Medical College, Vadodara, Gujarat, India. chiku1305@rediffmail.comen_US
dc.identifier.citationThakkar S, Marfatia Y. EEC syndrome sans clefting: variable clinical presentations in a family. Indian Journal of Dermatology, Venereology and Leprology. 2007 Jan-Feb; 73(1): 46-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/53019
dc.language.isoengen_US
dc.source.urihttps://www.ijdvl.comen_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshEctodermal Dysplasia --geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFoot Deformities --geneticsen_US
dc.subject.meshHair Diseases --geneticsen_US
dc.subject.meshHand Deformities --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshLacrimal Apparatus Diseases --geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshSyndromeen_US
dc.subject.meshTooth Abnormalities --geneticsen_US
dc.titleEEC syndrome sans clefting: variable clinical presentations in a family.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
Indian Journal of Dermatology, Venereology and Leprology