Sporadic disorder with craniosynostosis, anogenital,
and skin anomalies.
Beare-Stevenson Cutis Gyrata Syndrome.
About ten individuals have been described,
including children of Caucasian and African descent.
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.
Made by clinical picture and family history.
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.
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.
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.
If signs of decompensated
hydrocephalus are present, for example, sunsetting of the eyes, drugs with a
potential to increase intracranial pressure should be avoided.
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
Przylepa KA, Paznekas W, Zhang M, et al: Fibroblast growth factor receptor 2
mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet
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.