Results 131 to 140 of about 8,630,051 (376)
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema+19 more
wiley +1 more source
Objective. To verify if the placental thickness allows determining the gestational age, evaluating the correlation between the referred gestational age with the studied one, and the accuracy of the placental thickness measurement (biometry) with fetal ...
André Luiz Louzada Maldonado+5 more
doaj +1 more source
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy+15 more
wiley +1 more source
Background Birth weight- and gestational age-specific perinatal mortality curves intersect when compared across categories of maternal smoking, plurality, race and other factors. No simple explanation exists for this paradoxical observation.
Sauve Reg+9 more
doaj +1 more source
Studies of the Irradiation Protection Effect of Fetal Liver in Mice. I. Influence of the Gestational Age of the Donor Tissue [PDF]
Paul N. Tschetter+2 more
openalex +1 more source
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter+6 more
wiley +1 more source
Neurological assessment of gestational age in newborn. [PDF]
Victor Dubowitz
openalex +1 more source
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero+17 more
wiley +1 more source
Working party to discuss nomenclature based on gestational age and birthweight. [PDF]
G. A. Neligan+12 more
openalex +1 more source