Connective tissue disease resulting in early aging processes
of the skin and generalized osteopenia with predisposition to fractures.
Other features include joint hyperlaxity, bone fragility, muscle hypotonia,
hip dislocation, sunken eyes, microcorneas, and failure to thrive.
Bamatter Syndrome; Bamatter-Franceschetti-Klein-Sierro
Syndrome; Geroderma Osteodysplastica Hereditaria; Hereditary Geroderma
Osteoplastica; Osteoplastic Geroderma; Premature Senility Syndrome; Walt
Disney Dwarfism Syndrome (“Snow White and the Seven Dwarfs”).
Familial connective tissue disorder first described in 1950 in a
Swiss family by Frederic Bamatter, a Swiss pediatrician.
Rare; approximately 50 cases reported in the literature,
mainly in endogamous Mennonite religious population.
Inheritance is X-linked recessive with
occasional manifestations in females. Less severe in female heterozygotes.
Unknown. Altered activity of the activator
protein-1 (AP-1) in fibroblasts may lead to relevant changes in the
extracellular matrix composition, which could explain the possible
correlation between some of the defects shown in these patients.
Characteristic skin changes suggesting precocious aging
and osseous changes, including osteoporosis and multiple lines similar to growth
rings of trees. Facies shows a “droopy, jowled, prematurely aged
appearance”—linked to the dwarfs in Walt Disney's “Snow White and the
Seven Dwarfs”—hence the synonym. Metaphyseal pegs indenting the epiphyses
of long bones may represent a primary, age-dependent (only visible at 4 to 5 years of age)
alteration of bone shape which could be used as a new bone marker
specific to the condition.
Premature skin aging of the face and dorsum of
hands and feet is recognizable from birth. The skin appears thin and creased
with reduced turgidity and elasticity, more marked over the hands and feet.
Generalized joint hyperextensibility and severe osteoporosis usually are
present. Intelligence is normal. Presentation with hypotonia in childhood is possible.
Bones are osteoporotic and susceptible to fracture, particularly the
vertebrae, which may show compression with anterior wedging and biconcavity.
Dental and facial abnormalities, including maxillary hypoplasia and
mandibular prognathism, have been described.
No known reports in the anesthetic
literature. Obtain full history of motor milestones, previous complications
(especially following surgeries), and familial-related disorders. Assess
potential airway difficulties because of dental, maxillary, and mandibular
Vascular access may be difficult because of
laxity of the subcutaneous tissues. Careful positioning of patients is required
because of osteoporotic bones (danger of fractures, particularly the
vertebrae). Spontaneous breathing should be maintained until the airway has been
No known implications with this
De Barsy Moens Diercks Syndrome (De Barsy Syndrome; Progeroid
Syndrome of De Barsy; Corneal Clouding Cutis Laxa Mental Retardation
Syndrome): Rare disorder inherited as an autosomal recessive trait. The main
characteristics are degeneration of the elastic tissue in the skin (cutis
laxa), involuntary movement of the arms and legs (athetosis), cloudy cornea
of the eye, large prominent ears, generalized hypotonia, hyperlaxity of small joints,
frontal bossing, and short stature.