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Very rare rhizomelic dwarfism disorder characterized
by short humeri, hypoplastic everted humeral condyle, proximal radioulnar
diastasis, anterolateral radial head dislocation, depressed nasal bridge,
broad base of nose, and long philtrum.
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Recessive Form: Autosomal recessive omodysplasia; generalized omodysplasia.
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Dominant Form: Omodysplasia.
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First described in three cases by P. Maroteaux in 1989.
Etymologically omodysplasia is defined as shoulder (omo- Greek for shoulder)
dysplasia.
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Fewer than 30 cases described until 2004.
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Autosomal recessive. Many patients are of
Hungarian Gypsy origin. Autosomal dominant form affects only the upper limbs.
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Pathologic characteristics of this medical
condition are the presence of omodysplastic diaphyseal plates showing an
expanded zone of proliferating cartilage and an increased number of closely
packed small chondrocytes. A functional deficiency of diaphyseal cells is
partially replaced by a large number of small chondrocytes in the
proliferating zone of the diaphyseal plate. However, the replacement is
considered inefficient and leads to weakness of the bone structure. Possible
male predominance.
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Clinical appearance and bone radiographs show short
humeri, radioulnar diastasis at the elbows, short radii and ulnae, short
femora with club-shaped upper end. In some cases, a long bone may be
missing.
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Dwarfism with short limbs and dysmorphic
features: flat face with prominent forehead; large tongue; short, upturned
nose; brachycephaly; small mandible; large, low-set ears; short neck. Mental
retardation and congenital heart disease (patent ductus arteriosus, atrial
septal defect, coarctation of aorta, mitral valve prolapse) may be
associated. Midline hemangiomas are often present in infants.
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Check for congenital heart disease
(echocardiography), atlantoaxial joint instability, and presence of sleep
apnea syndrome (night oximetry) as for any form of dwarfism. Stenosis of the
spinal canal can produce paraparesis, and scoliosis with pectus carinatum
can cause restrictive lung disease.
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Direct laryngoscopy and tracheal
intubation can be difficult because of the presence of macroglossia,
micrognathia, and short neck; a laryngeal mask airway and equipment for
difficult intubation should be ready for use (e.g., fiberoptic, Bullard
laryngoscope, retrograde technique). In case of sleep apnea syndrome, use of
a nasopharyngeal airway is recommended during the first hours (and night)
after general anesthesia. In case of C1-C2 subluxation, the neck should be
stabilized during intubation and positioning of the patient. Special
attention to the cervical spine during positioning. Confirm the absence of spinal
cord compression before induction of anesthesia or consider somatosensory
evoked potentials intraoperatively.
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No specific implications.
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Robinow Syndrome: Extremely rare autosomal dominant disorder
characterized by mild-to-moderate short stature (postnatal growth
retardation) and distinctive craniofacial anomalies resembling those of an
8-week-old fetus, called the “fetal face.” Other features include
macrocephaly with frontal bossing, ocular hypertelorism (abnormally
prominent), anteverted nose, and sunken nasal bridge. May include forearm
brachymelia, abnormally short fingers and toes, clinodactyly, unusually
small hands with broad thumbs, scoliosis, and thoracic hemivertebrae.