Prenatal differentiation of ventral abdominal wall defects. Are amniotic fluid markers useful adjuncts?

We retrospectively reviewed 29 cases of ventral abdominal wall defects to evaluate the usefulness of amniotic fluid markers in the prenatal assessment of those disorders. Amniotic fluid alpha-fetoprotein (AF-AFP) values were available in 17 cases diagnosed prior to 22 weeks' gestation and acetylcholinesterase (AF-ACE) values, in 21 cases. All 7 fetuses with a gastroschisis had an elevated AF-AFP, while only 2 of the 10 fetuses with an omphalocele had elevated values (P = .

Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: a new autosomal recessive syndrome or a variant of Fraser syndrome?

We describe two siblings of unlike gender born to non-consanguineous parents, with similar and unique congenital malformations. These include fused eyelids, craniofacial anomalies, ovarian cyst, subglottic stenosis, specific digital abnormalities, and no detected chromosomal abnormality. The specific digital abnormalities in both patients are characterized by extension of metacarpophalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third.

Second case report of del(4) (q25q27) and review of the literature.

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al.