A severe polymalformative syndrome characterized by
facial dysmorphism, absent clavicle, and extremity abnormalities.
Often lethal within few months because of the failure to thrive and
severe cardiorespiratory dysfunction.
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs,
and Distal Aphalangia.
First described by E. Yunis and H. Varon in 1980.
Unknown (fewer than 20 case reports worldwide).
Unknown. A lysosomal storage disorder has been
Suggested by prenatal ultrasonography, as well as by
specific clinical features, including growth retardation prior to and after
birth. Defective growth of the bones of the skull along with complete or
partial absence of the shoulder blades (cleidocranial dysplasia)
characteristic facial features (severe micrognathia) and abnormalities of the
fingers and toes complete the diagnosis.
Patients have marked psychomotor delay, postnatal
failure to thrive, severe feeding problems, and
Clinical signs can involve head and neck (macrocrania with diastasis of
cranial sutures; calvarial dysostosis; sparse scalp hair; hypoplastic facial
bones; bitemporal indentations; small eyes; proptosis; low-set, dysplastic ears;
anteverted nostrils; narrow and high-arched palate; severe micrognathia; occasional
glossoptosis [moderate]; retracted and poorly delineated lips with diminished nasolabial distance), skeleton (absent clavicles; absent sternal ossification; pelvic dysplasia with
hip dislocation; hypoplasia of thumbs; middle and distal aphalangia of the other
fingers; agenesis of the first metatarsals; hypoplastic proximal phalanges of the
big toes; delayed bone maturation; occasional pathological fractures; and nail
hypoplasia), CNS (arhinencephaly; absent corpus callosum; hypoplasia of the
vermis; neuronal loss and vacuolation involving cerebral cortex; basal ganglia;
cerebellar dentate nuclei and spinal anterior horns; hypertonia and hypotonia have
also been reported), and heart (cardiomyopathy, tetralogy of Fallot). The
majority of patients die in infancy as a result of severe failure to thrive and
A complete evaluation of
the airway is indicated
(clinical, radiographs). The cardiac function must be assessed for
the potential association of congenital heart defects. An
echocardiogram is most useful in this situation. Evaluate
neurological function (clinical, CT, EEG). Blood examination must
include a complete blood cell count because of frequent infections.
Also, the hemoglobin, electrolytes, and glucose must be obtained. If the patient is
on parenteral nutrition for failure to thrive, obtain albumin levels, liver
enzymes, and bilirubin. Consider
sedative premedication in older children with developmental delay.
There is no literature
available about this condition. Because of the presence of facial
anomalies suggesting the possibility of difficult airway
management, it is recommended to maintain spontaneous ventilation
until the airway has been secured and lung ventilation confirmed.
The availability of a laryngeal mask airway and/or fiberoptic
equipment is required. Particular attention should be given to the
positioning of the patient intraoperatively (pathological fractures).
Proper padding must be ensured to reduce pressure point
complications. Venous access can be difficult because of extremity
malformations. Central venous access using the subclavian route
should be avoided because of the ...