Polymalformative syndrome characterized by Marfan-like
appearance (arachnodactyly), ossification disorders, and mental retardation.
Arachnodactyly with Abnormal Ossification and Mental
Five reported cases in the
literature. Possible association with chromosome 10 abnormality.
Numerous craniofacial abnormalities, including
protruding eyes with downward-slanting palpebral fissures, midface hypoplasia, short,
upturned nose, micrognathia, and abnormal, severely underdeveloped epiglottis.
Arachnodactyly was present in all cases. Severe
developmental delay. Recurrent apneic episodes and feeding difficulties are
The main concerns are related to craniofacial
abnormalities. Potential difficult airway in terms of mask ventilation and
laryngoscopy. Since these patients are prone to airway obstruction and apneas, minimizing or
avoiding exposure to opioids or other sedatives is desirable. Close
monitoring postoperatively is a requirement. Respiratory function may be
compromised as a result of repeated aspiration pneumonias. The ability to
protect the airway from aspiration is probably impaired as a result of the abnormal
epiglottis. Malnutrition because of feeding difficulties may alter drug
binding and clearance and impair the immune system function. Malnourished
patients may also suffer from electrolyte disturbances and dehydration.
Congenital Contractural Arachnodactyly: Marfanoid presentation.
Other features include flexion contractures of multiple and major joints
(including elbows, knees, hips, and fingers), often severe kyphoscoliosis
accompanied by ventilation impairment, muscular hypoplasia, cardiovascular
abnormalities (atrial septal defect, ventricular septal defect, interrupted
aortic arch, single umbilical artery, and, rarely, aortic root dilatation);
duodenal and esophageal atresia, intestinal malrotation; and camptodactyly.
Thought to be associated with mutations in the fibrillin 2 gene.
Marfan Syndrome: Generalized connective tissue disorder with
impaired structural integrity of the skeletal (hyperextensible joints),
ocular, pulmonary (spontaneous pneumothorax), and cardiovascular systems (risk of
valvular/aortic disease) caused by mutations in the fibrillin 1 gene.
Kosztolanyi G, Weisenbach J, Mehes K: Syndrome of arachnodactyly,
disturbance of cranial ossification, protruding eyes, feeding difficulties,
and mental retardation. Am J Med Genet