Guadalajara camptodactyly syndrome type II.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003878:Dermatoglyphics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D011247:Pregnancy; D013577:Syndrome