• Maxillofacial Plastic and Reconstructive Surgery
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• 제21권2호
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• pp.220-224
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• 1999

The acrofacial dysostosis(AFD) is a rare heterogenous disorders combining varying severities of mandibulofacial dysostosis(MFD) with pre and/or post axial limb abnormalities. The Nager syndrome is characterized by preaxial limb defects whereas Miller syndrome is characterized by post axial limb defects. Our AFD case is a 14-year old female. She showed malar hypoplasia, cleft lip & palate(Rt, Lt side), wide nasal bridge, telecanthus. Her right thumb was abscent and middle phalanx, radius, carpal bones of right hand were hypoplastic, and metatarsus varus was present. She showed normal stature and intelligence.

• Journal of Genetic Medicine
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• 제1권1호
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• pp.1-3
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• 1997

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis. The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제42권6호
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• pp.388-392
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• 2016

In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of her Treacher Collins syndrome. The patient underwent mandibular distraction osteogenesis under general anesthesia. The mandible was expanded by 15 mm using internal bilateral distractors. After distraction osteogenesis, the patient's respiratory problems resolved, and she was able to sleep comfortably. Distraction osteogenesis was an effective method of advancing the mandible, increasing the upper airway space and ultimately preventing obstructive sleep apnea syndrome in patients with Treacher Collins syndrome.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.