APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME

Abstract

A complete dissection was done on a 7 day, 46 XY infant with mild IUGR and a syndrome of microcephaly, fleeting forehead, high bridge of nose, mongoloid slanting of palpebral fissures, micrognathia, congenital heart disease, hypoplastic external genitalia with penile hypospadias, foot deformities and remarkable redundancy of skin, especially over “nape of neck” and extremities.Anatomical and histological studies showed an apparent absence of elastic fibers in skin, heart defects (absence of superior vena cava, left superior vena cava entering an enlarged coronary sinus, large ASD, triple coronary arteries, PDA, bicuspid pulmonic valve), hypoplastic inguinal testes, and bilateral Potter Type II dysplastic, polycystic kidneys. These findings are interpreted as a (genetic?) multiple congenital anomaly syndrome with apparent mosaic pleiotropy rather than as a connective tissue dysplasia with relational pleiotropy. Skin findings may reflect fetal lymphedema; in a similar patient (Kaye, et. al., 1974 Am. J. Pis. Child. 127:115) pitting edema of feet was seen. This condition may represent a new syndrome.