• Journal of the korean academy of Pediatric Dentistry
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• v.23 no.3
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• pp.601-608
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• 1996

Robinow syndrome or fetal face syndrome is a rare inherited disorder characterized by short stature, mesomelic brachymelia, hypoplastic genitalia, and a typical facial appearence ("fetal face") with frontal bossing, hypertelorism, ear abnormalities, a short upturned nose, long philtrum, micrognathia, and macrocephaly. Intraoral features have included quite a few dental cavities, crowding, hypoplastic uvula, cleft lip or/and cleft palate, gingival hyperplasia, alveolar hyperplasia, enamel hypoplasia, delayed eruption, and congenital missing of the permanent teeth. We report on a 10 years old girl with Robinow syndrome. The patient had most of the typical anomalies of the syndrome and negative family history but, in addition, had mental retardation, hearing loss, and serous otitis media. Intraoral findings included dental cavities, crowding, hypoplastic uvula, repaired cleft palate, and mouth breathing. Dental treatment and V-tube insertion(by dept. of ENT) were performed under general anesthesia. In all cases of Robinow syndrome, thorough evaluation and united treatments with medical specialists should be performed.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.145-150
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• 2010

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.