Premium
Guadalajara camptodactyly syndrome type II
Author(s) -
Cantú J. M.,
GarcíaCruz D.,
GilViera J.,
Nazará Z.,
Ramírez M. L.,
SoléPujol M. T.,
SánchezCorona J.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb01218.x
Subject(s) - camptodactyly , short stature , medicine , microcephaly , pectus excavatum , dysplasia , dysostosis , anatomy , congenital disease , surgery , pediatrics
Two sisters and an unrelated girl presented a distinct intrauterine growth retardation‐malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive gene.