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A Continuing Enigma

John M. Opitz, MD

Arch Pediatr Adolesc Med. 1994;148(11):1206-1208.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

THE WORK done by Kousseff and his co-workers¹ at the University of South Florida, Tampa, the several papers from a symposium published recently in the American Journal of Medical Genetics,^2-25 and subsequent publications^26-29 attest to a strong ongoing interest in the Brachmann—de Lange syndrome (BDLS) by many different biomedical specialists. An editorial comment in 1985³⁰ summarized several of the historical, developmental, and genetic aspects of this condition and reviewed the data on which causal hypotheses had been based. Kousseff et al¹ contribute importantly to this genetic database through their observation of affected, half first cousins. The father of patient 2 was the half brother of the mother of patient 1, and both had some manifestations of BDLS, including shortness of stature, small head, synophrys, microstomia, highly arched palate, myopia, micromelia, intellectual impairment (mother of patient 1), and marked hypertrichosis with inability to read or . . . [Full Text PDF of this Article]

Author Affiliations
Foundation for Developmental and Medical Genetics Helena, Mont

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