ABSTRACT
Craniodiaphyseal dysplasia is a rare genetic disorder of bone due to modelling errors of long bones and skull bones. Facial and cranial thickening and distortion are particularly striking in this form. The genetic understanding of this disorder is unsatisfactory. We present one case of Craniodiaphyseal dysplasia involving facial bone, skull that causes nasal obstruction. This 3-year old female who was diagnosed of craniodiaphyseal dysplasia presented abnormal facial figuring, which is excessively thickened cortical bone resulting in very large craniofacial bony structure. The patient sufferred from respiratory difficulty due to complete obstruction of choana. We performed surgical recanalization of choanal atresia by transpalatal approach and gained good postoperative result.
Subject(s)
Child, Preschool , Female , Humans , Choanal Atresia , Constriction, Pathologic , Facial Bones , Nasal Obstruction , Skull , Strikes, EmployeeABSTRACT
Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.
Subject(s)
Female , Humans , Bone Diseases, Developmental , Cranial Nerve Diseases , Facial Bones , Head , Hyperostosis , Rare Diseases , Sclerosis , SkullABSTRACT
Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.