Abstract In Reply.—In my editorial commentary1 I reaffirmed the value of the classic case report. The EEC syndrome served to illustrate this point. An astute case report2 emphasized the involvement of the urinary tract in this disorder. This strengthened our powers of recognition and treatment, updating a genetic diagnosis. The first child in the family I saw had a split left hand and right foot, and there was a patrilineal history of cleft hand and foot. We supported the diagnosis of split hand and foot as most probable, with a recurrence risk of maximally 50%. A second child with malformations was born later into the family. The child had an indented upper lip, a cleft palate, and lateral displacement of the lacrimal puncta (telecanthus). The hands were normal. The feet were also within normal limits. I could insert my index finger between the first and second toes, which References 1. Hecht F: Updating a diagnosis: The EEC/EECUT syndrome . AJDC 1985;139:1185. 2. London R, Heredia RM, Israel J: Urinary tract involvement in EEC syndrome . AJDC 1985;139:1191-1193. 3. Temtamy SA, McKusick VA: The Genetics of Hand Malformations . New York, Alan R Liss Inc, 1978, p 157. 4. Cohen MM Jr: Ectrodactyly-ectodermal dysplasia-clefting syndrome , in Bergsma D (ed): Birth Defects Compendium , ed 2. New York, Alan R Liss Inc, 1979, p 384. 5. Smith DW: Recognizable Syndromes of Human Malformation , ed 3. Philadelphia, WB Saunders Co, 1982, p 216.
American Journal of Diseases of Children – American Medical Association
Published: Jul 1, 1986