ABSTRACT
Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.
Subject(s)
Adolescent , Humans , Arm , Congenital Abnormalities , Constriction, Pathologic , Diagnosis, Differential , Displacement, Psychological , Dysostoses , Ear , Epiphyses , Fingers , Growth Disorders , Hearing Loss, Sensorineural , Hypertelorism , Intellectual Disability , Korea , Magnetic Resonance Imaging , Metacarpal Bones , Metatarsal Bones , Neurologic Manifestations , Nose , Osteochondrodysplasias , Palatine Tonsil , Platybasia , Skull , Spinal Canal , Spinal Stenosis , Spine , Toes , Upper ExtremityABSTRACT
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.
Subject(s)
Child , Female , Humans , Brachydactyly , Dysostoses , Eye Movements , Facial Bones , Follow-Up Studies , Foot , Hand , Head , Magnetic Resonance Imaging , Muscle Hypotonia , Reference Values , Skull , VentilationABSTRACT
Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide. Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and advanced bone age. Most patients do relatively well except for the problems of mental deficiency and arthritic complaints. Progressive restriction of movement of the hands, elbows, and spine may occur. Recently, we experienced a case of acrodysostosis in and 11-year-old boy who presented with short stature, short hands and feet, nasal hypoplasia, mental retardation, and typical radiographic findings including severe shortening of metacarpals, metatarsals and phalanges, cone-shaped epiphyses of the hands and feet.