It is an inherited polymalformative syndrome characterized by typical facial features, enlarged viscera, and skeletal anomalies. Other features include short stature, cranial hyperostosis, hepatomegaly, and diabetes mellitus. It is probably a variant of autosomal recessive type of craniometaphyseal dysplasia.
Approximately 30 cases have been reported in the literature.
Autosomal recessive inheritance trait and consanguinity has been suggested as a risk factor. The genetic defect has been mapped to 6q21-q22.
Craniofacial abnormalities include thickening of the cranial bone with scaphocephaly (long, narrow cranium as a result of premature closure of the sagittal suture) and frontal bossing, micrognathia with an arched palate, and a beaked nose. This autosomal recessive form is clinically more severe than the autosomal dominant form (☞Craniodiaphyseal Dysplasia Syndrome). Cranial hyperostosis frequently results in cranial nerve compressions (blindness, deafness, facial palsy) and nasal obstruction. Mild mental retardation is possible. Hepatosplenomegaly is common, as is diabetes mellitus. Abnormalities of the digits include brachydactyly and clinodactyly, and the metacarpal bones may be abnormal. Patients are usually small as a consequence of advanced bone age and early growth plate closure. Fine hair and diffuse skin pigmentation often complete the clinical picture.
Potential for difficult airway if micrognathia is present. Early closure of cranial suture lines may lead to intracranial hypertension. Liver function studies (aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, bilirubin, international normalized ratio [INR], partial thromboplastin time) and a complete blood count should be done; splenic sequestration of platelets may be present. Perioperative management of diabetes mellitus depends on the timing and duration of surgery; involvement of an endocrinologist may be helpful. Nasal breathing as well as nasal passage of tubes (nasogastric or endotracheal) may be impossible. Avoid medications and anesthesia techniques known to potentially increase intracranial pressure in patients with craniosynostosis.
Other condition to be considered
CM: Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type. Am J Med Genet
et al: Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet