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A form of dwarfism characterized by short limbs with
abnormal morphogenesis of the face and external genitalia.
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Recessive form: Costovertebral Segmentation Defect with Mesomelia
(COVESDEM) Syndrome.
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Dominant form: Robinow Dwarfism; Fetal Face Syndrome; Acral
Dysostosis with Facial and Genital Abnormalities Syndrome.
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Recessive forms caused by mutation in the ROR2
gene located on 9q22 (allelic to brachydactyly type B); autosomal dominant
forms exist.
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Characteristic facial features include macrocephaly;
dolichocephaly; bulging forehead; micrognathia; hypertelorism; wide
palpebral fissures; S-shaped lower eyelids; down-slanting palpebral
fissures; short, upturned nose with anteverted nostrils and long philtrum;
V-shaped or tented upper lip; triangular mouth; crowded teeth; gingival
enlargement; and ankyloglossia. They are combined with mesomelic shortening
of the forearm and hypoplastic genitalia.
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Features can also involve head and neck (large
anterior fontanel, posteriorly rotated ears, absent uvula, crowded teeth, prominent
eyes), heart (right ventricular outlet obstruction),
genitourinary (renal duplication,
hydronephrosis, small penis, small clitoris, small labia majora), gastrointestinal
(GI) (abnormal umbilicus, umbilical hernia cryptorchism), and skeleton (scoliosis,
ribcage, hand and foot abnormalities, small stature, developmental delay).
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The main discriminating feature is the occurrence of multiple rib and
vertebral anomalies in the recessive form.
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Evaluate cardiac function (clinical,
ECG, echocardiography, radionuclide imaging, and cardiac catheterization if
necessary); renal function (clinical, echography, laboratory); airway (clinical,
radiographs); and respiratory function if scoliosis is important (clinical, chest
radiographs, pulmonary function test, arterial blood gas analysis).
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Direct laryngoscopy and tracheal intubation
can be difficult. Spontaneous respiration must be maintained until the airway is secured
and ventilation confirmed. Tracheal intubation can be difficult. A laryngeal mask and
fiberoptic equipment for tracheal intubation may be required. Perioperative cardiac and
respiratory monitoring should be considered.
Careful intraoperative positioning is needed because of skeletal anomalies. Regional
anesthesia is not contraindicated however, the presence of vertebral anomalies should be
considered.
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Fluid regimen and anesthetic drugs
should be adapted to renal function. Muscle relaxants should be avoided
until airway is secured and ventilation confirmed.
Butler MG, Hayes BG, Hathaway MM et al: Specific genetic diseases at risk
for sedation/anesthesia complications. Anesth Analg 91(4):837, 2000.
Macdonald I, Dearlove OR: Anaesthesia and Robinow syndrome. Anaesthesia 50(12):1097,
1995.
Patton MA, Afzal AR: Robinow syndrome. J Med Genet 39(5):305, 2002.