Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum.
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D012688:Septum Pellucidum / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed
D013006:Growth Hormone