Noonan's and DiGeorge syndromes with monosomy 22q11.

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.

Is intensive care justified for infants weighing less than 801 gm at birth?

During 1974-1977, 158 infants of birth weights less than 801 gm were referred from outlying hospitals. The survival rate was 25% for the whole group and 35% for those weighing 700 to 800 gm. Many were in a poor condition on arrival. One hundred and nineteen died. The most common causes of death were intracranial hemorrhage (39), RDS (26), and infection (13). Thirty-seven of the 39 survivors were followed until 18 months postterm. Growth failure was common--57% were below the third percentile in weight, 37% in length, and 17% in head circumference. Three had retrolental fibroplasia. Five children (14%) had major neurologic sequelae. Eight were severely handicapped with a Bayley score of less than 70 and ten were moderately handicapped with a Bayley score between 70 and 84, resulting in a neurodevelopmental handicap rate of 49%. Significant factors correlating with survival and intact outcome were birth weight greater than or equal to 700 gm, gestation greater than or equal to 26 weeks, the absence of asphyxia, and good condition on arrival at the NICU. There was no intact survival below 700 gm birth weight. The handicap rate of survivors between 700 and 800 gm was only 39%. Although intensive care in a referral unit may not be justified for those less than 700 gm, every effort should be made in the care of those 700 to 800 gm.