HUM-MOLGEN DIAGnostics/Clinical Research


Mandibulo-Facial Dysostosis

Good Morning, I have seen a newborn white male with macrostomia, and bilateral preauricular tags appearing almost like inverse duplicated pinnae. His external auditory canals are present but small, particularly at the outer opening. His ear pinnae are normal otherwise. His palpebral fissures downslant slightly. His zygomatic arches are intact. His lid margins are normal and he has no extension of hair onto his face. He is normal below the neck. He is a behaviorally normal infant, but is not yet a month old. His mother is caucasian. Paternity is disputed, but the father may be of caucasian/asian mix. In a literature search, I have come across an article by Hunt and Smith from the early 1950's entitled 'Mandibulo-Facial Dysostosis'. The pictures in this article describe my patient exactly. Subsequent to that article, all references equate MFD with Treacher Collins Sydrome. Neither my patient nor the patient in the Hunt and Smith article has Treacher Collins syndrome. I would be grateful for any input that anyone might have on this apparent contridiction.

Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX 77030