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At a glance

A camptodactyly syndrome associated with other skeletal anomalies and mild mental retardation.


Type I: Faciothoracoskeletal Syndrome.


Approximately 15 cases have been described to date.

Genetic inheritance

In Guadalajara Types I and II, inheritance is autosomal recessive with parental consanguinity being a significant risk factor. In Guadalajara Type III, inheritance is autosomal dominant.


Based on the clinical features and family history.

Clinical aspects

Common findings in Guadalajara Type I and II are intrauterine growth retardation, short stature, abnormal vertebral size, pelvic anomalies (eg, hypoplastic iliac wings), pectus excavatum or carinatum, camptodactyly, microphthalmos, and mental retardation.

  • Guadalajara Type I: In addition to the aforementioned signs, these patients may have seizures, micro- and brachycephaly, flat facies, small ears with attached lobule, blepharophimosis, microcornea, telecanthus, epicanthic folds, anteverted nares, prognathism, high-arched palate, microstoma, abnormal dental eruption and malocclusion, anodontia, restricted joint mobility, cubiti and halluces valgi, metacarpal anomalies, syndactyly of toes, and pigmented nevi.

  • Guadalajara Type II: Additional findings in these patients consist of microcephaly, short neck, low-set ears, ptosis, hypertelorism, thin lips, retro- and micrognathia, scoliosis, cuboid-shaped vertebral bodies, wide interpedicular distance in the lumbosacral region, ulnar deviation of the fingers, uni- or bilateral hip dislocation, slenderness or growth arrest of the long bones, hypoplastic patellae, and generalized osteopenia.

  • Guadalajara Type III: The distinctive facial appearance is due to prominent supraorbital ridges, ocular hypertelorism, telecanthus, symblepharon, simplified ears, flat and wide nasal tip, retrognathia, short neck with pterygium colli, and congenital shortness of the sternocleidomastoid muscle. Other features include spinal defects (cervical and/or lumbar spina bifida occulta), thin hands and feet, camptodactyly, multiple nevi on face and torso, micropenis, and mild mental retardation with delayed motor milestones. Bone radiographs reveal digitiform impressions of the skull, increased bone trabeculae with generalized osteopenia of the osseous trabeculae, cortical thickening of the long bones, and delayed bone age.

Precautions before anesthesia

Check neck mobility for range of motion. The facial anomalies are generally mild, but the combination with cervical anomalies could potentially result in difficult airway management. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

If difficult airway management is expected, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence ...

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