Abstract

cent of mi small right-arching aorta and widely patent leftarching ductus arteriosus; and diiatcd and hypertrophicd right ventricle and widely patent forarncan ovale. There were no valvular abnormalities. Ililatcral hydronephrosis and hydroureter with ma&cd inflammation of the renal parenchyma were present. There were no abnormalities of the central nervous system. The adrenals weighed only 2 grams. The internal grnitalia apprarcd normal. Histological examination sholvrd scvrrc’ bronchopneumonia and pyeloncphritis. The thyroid and adrenals wcrc not remarkable. Thionin stain of adrenal nuclei showed a normal fcmalr complement of sex chromatin. This case illustrates most of the featurrs of dc Lange’s syndrome. The facics is characteristic: and, once seen, is easily recognizable again. Gardiovascular anomalies are common and other varieties have included vrntricular septal defect and anomalous venous return. Gastrointestinal anomalies, also noted by Schlesinger and others’ include hiatus hernia, pyloric stenosis, malrotation, and reduplication. Low birth weight and mental and developmental retardation have h-n prominent features in all cases, though the agr and apparent prematurity of this infant prceluded an accurate asscssmcnt. This type of syndrome, consisting of a constant combination of anomalies, might be cxpetted to be associated with a chromosomal abnormality. However, in all the cases so far rcported the modal number of chromosomes was 46, and no morphological abnormalities were dctectcd except for an extra small fragment in 2 of Jervis and Stimson’s cascs.3 Schlesingrr and associates? described endocrine disorder as a prominent feature in their cnscs, but this is probably a manifestation of the syndrome rather than the primary cause. It may also be partly responsible for the retardation, susceptibility to infection, and early death M:hich occur SO frcqucntly with this syndrome. No positive family history of congenital abnormality or consanguinity has brrn rcportrd exccpt in 2 cases ,W it k unlikrly that it iq an Communications in brief 829

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