Mandibulo-facial dysostosis (Treacher Collins syndrome).
نویسندگان
چکیده
Mandibulo-facial dysostosis has been described with increasing frequency in recent years. Once known it is readily recognized and may be more common than is sometimes imagined. We describe in this article a case seen in a newlyborn infant who died at the age of 21 months and in whom careful dissections were made of the facial region. The infant (A.R., 456/1954) was admitted to the Royal Aberdeen Hospital for Sick Children at the age of 2 weeks He would take several drachms of his feed, then fall asleep; there was no vomiting and the bowels moved well. The child at 2 weeks weighed 5 ib. 7 oz. No abnormalities were found about the heart or lung. No masses were felt in the abdomen. On admission it was noted that the baby was a 'bird-like crature with rather curious eyes and a receding chin'; the nostrils were sonmwhat small; there was hypoplasia of the malar bones; the ears were rather low set with some failure of cartilage development, and appeared too big; the tongue seemed a little lare and was held towards the back of
منابع مشابه
Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids
Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their ...
متن کاملTreacher Collins Syndrome with choanal atresia: a case report and review of disease features.
Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial...
متن کاملTreacher Collins Syndrome associated with foot deformity and genital anomalies Ayak deformitesi ve genital anomali ile birliktelik gösteren Treacher Collins Sendromu
19 T reacher Collins syndrome is an autosomal dominant genetic disorder and affects mainly the head and face. The incidence is estimated to range from 1 in 40 000 to in 70 000 live births. The patients with TCS have usually characteristic bilateral facial anomalies (1). This article reports a case of Treacher Collins syndrome with the presence of genital anomalies and foot abnormality that has ...
متن کاملMandibulofacial dysostosis (Treacher Collins syndrome): a case report.
Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, wh...
متن کاملPatient with AIDS and acute circinate skin eruptions.
Figure 1. A polycyclic, papular eruption on the face. A 24-year-old transgender woman with Treacher-Collins syndrome (mandibulofacial dysostosis) and AIDS (CD4 + cell count, 151 cells/mm 3) presented with a 1-month history of a pruritic, mildly erythematous, polycyclic papular eruption distributed diffusely over her face. She had no history of any similar eruptions and no history of facial impl...
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عنوان ژورنال:
- American journal of diseases of children
دوره 113 4 شماره
صفحات -
تاریخ انتشار 1955