Guadalajara camptodactyly syndrome type II |
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| Authors: | J. M. Cantú ,D. Garcí a-Cruz,J. Gil-Viera,Z. Nazará ,,M. L. Ramí rez,,M. T. Solé -Pujol, J. Sá nchez-Corona |
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| Affiliation: | División de Genética, Subjefatura de Investigatión Científica, Unidad de Investigación Biomédica;Hospital de Pediatría;Hospital de Especialidades, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico |
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| Abstract: | 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 homozygosity from an autosomal recessive gene. |
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| Keywords: | Camptodactyly intrauterine growth retardation mental retardation patella agenesis/hypoplasia |
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