Mandibulo-oculo-facial dyscephaly.

Mandibulo - Facial Dysostosis * by Allan

THE first recorded cases of this comparatively rare congenital anomaly were reported by Berry (1889), but it was not until 11 years later that Collins (1900) recognized that the condition occurred as a syndrome. Further cases in Great Britain have been described by Mann and Kilner (1943) and Johnstone (1943). The clinical picture varies considerably from case to case and atypical, incomplete an...

Mandibulo-facial dysostosis (Treacher Collins syndrome).

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 Aberdee...

Mandibulo-facial dysostosis. A familial study.

MANDIBULO-FACIAL dysostosis is the name given by Franceschetti and Zwahlen (1944) and Franceschetti and Klein (1949) to a complex of symptoms which together comprise a congenital oro-facial syndrome (Wildervanck, 1960). Franceschetti and Klein (1949) reviewed the literature and described the typical characteristics of the syndrome as follows: (1) Antimongoloid palpebral fissures with either a n...

A Case of Branchio-oculo-facial Syndrome.

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old g...

Branchio-oculo-facial syndrome with valvular pulmonic stenosis.