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Sporadic disorder with craniosynostosis, anogenital, and skin anomalies.

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Beare-Stevenson Cutis Gyrata Syndrome.

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About ten individuals have been described, including children of Caucasian and African descent.

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A new mutation on chromosome 10q26, transmitted in an autosomal dominant way, seems to be the most likely cause. This gene is also involved in other craniosynostosis syndromes (e.g., Crouzon syndrome, Apert syndrome, Pfeiffer syndrome). Only sporadic cases have been described. Mutations in fibroblast growth factor receptor-2 were found in some, but not all, patients.

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Unknown.

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Made by clinical picture and family history.

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Presents with a combination of craniofacial defects, ear malformations, skin anomalies, and anogenital defects. Craniosynostosis, choanal atresia, and a cleft or narrow palate are the prominent craniofacial features. Five patients had mild-to-severe cloverleaf skull, and one presented with acrocephaly. Neurologic malformations were limited to hydrocephalus in some of the patients with cloverleaf skull, and one patient also had agenesis of the corpus callosum. Upper airway obstruction caused respiratory distress postnatally in some cases. Skin anomalies presented with deep skin furrows (cutis gyrata) and acanthosis nigricans. Prominent umbilical stump or umbilical hernia have been reported, as have an anteriorly placed anus, cryptorchidism, and a bifid scrotum. Most children die early, usually of unknown causes or respiratory failure. The longest reported survival time is 13 years.

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Craniofacial anatomy must be assessed prior to anesthesia. Chest radiography is helpful to depict signs of recurrent aspirations. Some patients were described as having nonreactive pupils, which must be documented prior to the intervention.

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Expect difficult tracheal intubation from narrow palate, clefts, choanal atresia, and mucosal tags of the alveolar gingiva. These children have died unexpectedly in the perioperative period, so they should be considered high-risk patients for anesthesia. If signs of increased intracranial pressures are present, adequate cerebral perfusion pressure must be maintained at all times. Whenever possible, regional anesthesia is preferable.

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If signs of decompensated hydrocephalus are present, for example, sunsetting of the eyes, drugs with a potential to increase intracranial pressure should be avoided.

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The syndrome shares features with other craniosynostosis syndromes, but the combination of the described features is considered unique.

Hall BD, Cadle RG, Golabi M, et al: Beare-Stevenson cutis gyrata syndrome. Am J Med Genet 44:82, 1992.  [PubMed: 1519658]
Przylepa KA, Paznekas W, Zhang M, et al: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 13:492, 1996.  [PubMed: 8696350]
Vargas RA, Maegama GH, Taucher SC, et al: Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet 121:41, 2003.

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