retinoic acid (ra) plays a key role in pattern formation along the major body axis and limbformation during vertebrate development. exposure to excessive retinoic acid (in uterus) generatescongenital malformations in limbs, craniofacial, cns, urogenital, heart, and axial skeletons. in thesestudies, seven groups of nmri pregnant mice were administered a single gavage dose of 100 mg /kgbody weigh...

valproic acid is one of the main antiepileptic drugs. there is an increased risk of neural tube defects and axial skeletal malformations among infants born to women who had received valproic acid. there is a hypothesis that one biochemical abnormality underlying the teratogenicity of valproic acid is a drug-induced reduction in maternal plasma zinc .in the present experimental study mated rats ...

Two cases of bizarre skeletal anomalies associated with intestinal malformation are presented. One patient had ileal atresia and Hirschsprung's disease, and the other anorectal malformation. Abnormalities in the number and morphology of ribs and vertebrae were present. Esophageal atresia often is associated with skeletal abnormalities, including supernumerary ribs, but these usually are not sev...

holt-oram syndrome (hos) is a developmental disorder inherited in an autosomal-dominant pattern. affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. in this study we present three cases of hos in the same family. in one of these three individuals we detected a transition of c to t (ctg-gtt, v205v) in exon 7 of the tbx5 gene. this ...

Typical venous malformations are easily diagnosed by skin color changes, focal edema or pain. Venous malformation in the skeletal muscles, however, has the potential to be missed because their involved sites are invisible and the disease is rare. In addition, the symptoms of intramuscular venous malformation overlaps with myofascial pain syndrome or muscle strain. Most venous malformation cases...

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone and others cause CMD1 and sex reversal, it is conceivable that some mutations might cause sex revers...

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites ...