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Camptodactyly syndrome associated with other skeletal anomalies and mild mental retardation.

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Type I: Faciothoracoskeletal Syndrome.

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Approximately 10 cases have been described to date. Autosomal recessive inheritance with parental consanguinity is a significant risk factor.

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Common findings in Guadalajara type I and II are intrauterine growth retardation, short stature, abnormal vertebral size, pelvis anomaly, pectus excavatum or carinatum, camptodactyly, microphthalmos, and mental retardation.

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Guadalajara type I: In addition to the aforementioned signs, these patients have seizures, microcephaly and brachycephaly, flat facies, microcornea, telecanthus, epicanthic folds, blepharophimosis, anteverted nares, prognathism, microstoma, dental malocclusion, anodontia, restricted joint mobility, and metacarpal anomalies.

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Guadalajara type II: Additional findings in these patients are microcephaly, short neck, low-set ears, ptosis, hypertelorism, thin lips, retrognathia and micrognathia, scoliosis, ulnar deviation of the fingers, and hypoplastic patellae.

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The described features suggest airway management may be difficult. Careful intraoperative positioning is needed. Consider interactions between anesthetic drugs and antiepileptic treatment.

Cantu JM, Garcia-Cruz, D, Gil-Viera J, et al: Guadalajara camptodactyly syndrome type II. Clin Genet 28:54, 1985.  [PubMed: 4040823]
Cantu JM, Rivera H, Nazara Z, et al: Guadalajara camptodactyly syndrome: A distinct probably autosomal recessive disorder. Clin Genet 18:153, 1980.  [PubMed: 7192193]
Figuera LE, Ramirez-Duenas ML, Garcia-Cruz D, et al: Guadalajara camptodactyly syndrome type I: A corroborative family. Clin Genet 43:11, 1993.  [PubMed: 7681735]

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