Disproportionate moderate dwarfism with Madelung wrist
deformity and multiple skeletal deformities.
Lamy Bienenfeld Syndrome; Lery-Weill Dyschondrosteosis
First described by A. Léri and J.A. Weill in 1929.
Pseudoautosomal dominant (mutation in the
pseudoautosomal genes SHOX or SHOXY, located on Ypter-p11.2, Xpter-p22.32).
Disease characterized by bowed radius and ulna, with
small stature mainly from mesomelic origin. Can be evocated at the end of
fetal growth. Predominant and more severe in female (female-to-male ratio =
Stature is short and disproportionate (adult
height 135 cm [53.1 inches]). Multiple skeletal deformities are observed.
Radiologically the bones present cone epiphyses, enlarged diaphysis,
metaphyseal anomaly, and multiple exostoses. Fingers and toes are abnormal.
Superior limb anomalies include mesomelia, increased carrying angle, limited
elbow mobility, dorsal-limited wrist mobility, subluxation of ulna, Madelung
wrist deformity (occurring after 10 years and described as a displacement of the hand to the
radial side as the result of dorsolateral distortion of the lower end of the
radius because of relative overgrowth of the ulna). Inferior limb can
present coxa vara, hip and pelvis anomalies, abnormal femur and patella,
genu varum, flat foot that restricts joint mobility. Scoliosis is frequent.
The face presents with a broad nose, depressed nasal bridge, and flat
Although there are multiple skeletal
deformities, there are no indications that a difficult airway must be
expected. However, it is recommended to assess carefully this aspect.
Consider chronologic age and not
physical stature to determine the airway size. Careful intraoperative positioning is difficult but
necessary because of deformations. Regional anesthesia is not
contraindicated but can be difficult because of skeletal anomalies.
No known pharmacological
Arkless-Graham Syndrome: Characterized by short hands and feet,
stubby fingers and toes, broad short nails, flat nasal bridge,
underdeveloped jaw, improper alignment of the teeth, widely spaced eyes,
mental retardation, and deformity of the bones in the arms, legs, and
elbows. It is inherited as an autosomal dominant trait. Females are affected
twice as often as males.
Ellis-Van Creveld Syndrome: Characterized by short limb dwarfism,
polydactyly, abnormal fingernails, and congenital heart defects. It is a
form of ectodermal dysplasia that involves the skin, hair, teeth, and nails.
It is inherited as an autosomal recessive trait.
Madelung Deformity: Results from partial dislocation of the bones
of the forearm because of trauma or infection. Short stature is not
Langer Mesomelic Dysplasia Type: Affects males and females
equally and is inherited as an autosomal recessive trait. Clinical features
include typically short, thick, curved bones of the radius and tibia. Other
features include restricted elbow and forearm movement, underdeveloped jaw,
and abnormal degree of forward curvature of the lower back.
Nievergelt Mesomelic Dysplasia Type: Rare form of dwarfism
characterized by shortening of the limbs and restricted ...