Geroderma Osteodysplastica Syndrome

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 abnormalities.

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 secured.

No known implications with this condition.

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.

Ehlers-Danlos Syndrome (EDS): A heterogenous group of inherited connective tissue disorders characterized by joint hyperlaxity, skin hyperextensibility and tissue fragility.