Catela, C. et al. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.
The major feature exhibited by a patient with HBICH deficiency includes multiple congenital malformations and abnormal neurologic findings.
Han Brunner and colleagues report the identification of de novo nonsense mutations in ASXL1 in individuals with Bohring-Opitz syndrome, which is characterized by intellectual disability, distinctive facial features and multiple congenital malformations.
This group includes a pregnancy with a fetus with multiple congenital malformations, two patients with intrauterine fetal death, and a nonpregnant woman.
Multiple congenital malformations had previously been diagnosed.
An ultrasound examination revealed fetal death and multiple congenital malformations; so the pregnancy was terminated.
© 2011 Wiley-Liss, Inc. Carpenter syndrome (MIM# 201000), a classical autosomal recessive multiple congenital malformation disorder first described in 1901 [ Carpenter, 1901], is characterized by craniosynostosis, polysyndactyly, obesity and other malformations.
Interestingly, mutations in Megf8 were recently identified in a small subset of children with Carpenter syndrome, which is an autosomal-recessive multiple-congenital-malformation disorder.
Multiple births, congenital malformations, chromosomal abnormalities, missing data on gestational age, and birth weight less than 500 g were excluded.
Obstetric history was obtained from medical records for the following exclusion criteria: stillbirths, multiple births, congenital malformations, pregnancies under regular drug treatment (for diabetes, hypertension, asthma, hypothyroidism, or other chronic diseases), and births with cesarean sections or at a gestational age < 37 weeks.
These neonatal problems remained significant even when medical or pathologic causes of intrauterine growth failure, including pregnancy hypertension, multiple gestation, and congenital malformations, were excluded.
