Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome.

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant disorder of the connective tissue with some typical vascular findings, skeletal manifestations, craniofacial features, and cutaneous findings with a wide phenotypic spectrum. Six different genes are involved in LDS and the diagnosis is based on the identification of a heterozygous pathogenic variant in TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or SMAD2 in children with suggestive findings. These genes distinguish LDS into six classes (LDS1-LDS6, respectively). Delay in diagnosis of Loeys-Dietz syndrome may be associated with an adverse prognosis due to a very high augmented risk of early complications such as aortic or vascular rupture. The present report describes a case of an early diagnosis of LDS in a neonate with cleft soft palate and aortic root dilatation.

Massive fetomaternal hemorrhage and late-onset neutropenia: description of two cases.

Massive fetomaternal hemorrhage (FMH) occurs in approximately 1:1,000 deliveries. In most cases, the cause is not identified. The clinical manifestations and the prognosis of a FMH depend on the volume of the hemorrhage and the rapidity with which it has occurred. We describe two cases of chronic massive fetomaternal hemorrhage with favorable outcome. During the follow-up, both infants showed late-onset neutropenia, which was not previously reported in healthy, growing infants with history of massive FMH.

Infants born to mothers with anti-SSA/Ro autoantibodies: neonatal outcome and follow-up.

Neonatal lupus syndrome is considered a model of passively acquired autoimmune disease. The first 10 newborns born to mothers with connective tissue disease and positive for anti-SSA/Ro antibodies enrolled in a follow-up program to evaluate the incidence of cardiac, hepatobiliary, hematologic, echoencephalographic, and cutaneous manifestations until 9 months of age are described in this study. No congenital heart block was observed, but only transient rhythm alterations were observed. In all, 1 infant showed typical neonatal lupus syndrome skin lesions at 3 months of age. During the neonatal period, echoencephalographic alterations were found more frequently, whereas at follow-up, hepatic and hematologic alterations were more often observed. In all, 1 baby showed persistent neutropenia. A standard program that enrolls all infants born to mothers with anti-SSA/Ro autoantibodies, who are at risk of developing neonatal lupus syndrome, should also include tests performed some time after birth, as a number of clinical manifestations might appear at a late stage.

Neonatal outcomes in triplet pregnancies: assisted reproduction versus spontaneous conception.

AIMS: The purpose of this study is to compare neonatal outcomes of spontaneously conceived triplets with triplets conceived by assisted reproduction. METHODS: This was a retrospective cohort study of all cases from assisted triplet pregnancies and controls from spontaneous triplet pregnancies. A total of 24 triplet pregnancies were studied: six spontaneous and 18 assisted. The following variables were evaluated in all newborns: prematurity, birth-weight, small for gestational age, birth-weight discordance, Apgar scores, major neonatal morbidity and perinatal mortality. RESULTS: Gestational age (33+/-1 vs. 33+/-2 weeks) and birth-weight (1760+/-256 vs. 1907+/-452 g) were similar in spontaneous and assisted triplet pregnancies. There were no significant differences in the rates of small for gestational age, discordance, and major neonatal morbidity. In the assisted reproduction group only the following cases were recorded: 1 surgically treated patent ductus arteriosus, 1 feto-fetal transfusion syndrome, 2 grade II intraventricular hemorrhage, 1 Cri du Chat syndrome and 1 stillbirth with malformations. CONCLUSIONS: This study is unable to assess the influence of assisted reproduction on the neonatal outcomes of triplet pregnancies. However, the results suggest that the incidence of major neonatal morbidity, especially malformations, might increase due to assisted reproduction. This finding requires further confirmation.