PEDIATRICS Vol. 79 No. 3 March 1987, pp. 410-412
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Growth Hormone Deficiency Associated With the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome and Isolated Absent Septum Pellucidum

Jørgen Knudtzon MD1 and Dagfinn Aarskog MD1

1 From the Department of Pediatrics, University of Bergen, Haukeland Hospital, Bergen, Norway

Two growth hormone-deficient patients with particular developmental defects are presented. One patient had the ectrodactyly-ectodermal dysplasia-clefting syndrome with lobster-claw deformities of the hands; thin, blond, and dry hair and enamel hypoplasia; and a facial raphe on the right side of the philtrum. The other patient had isolated absence of the septum pellucidum. The facial raphe and the absent septum pellucidum are related to cleft lip and septooptic dysplasia, conditions that have been associated with growth hormone failure. The association of the ectrodactyly-ectodermal dysplasia-clefting syndrome with isolated growth hormone deficiency has not been described previously.

Key Words: growth hormone deficiency • absent septum pellucidum • facial anomaly • ectrodactyly-ectodermal dysplasia-clefting syndrome

Submitted on April 11, 1986
Accepted on June 10, 1986




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