Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twin-to-twin-transfusion syndrome (TTS) is a serious complication in about 15% of monochorionic twin pregnancies. In severe TTS, the anemic pump twin (donor) develops anhydramnios and the hypervolemic recipient tense polyhydramnios, which often first calls attention to the condition. The most common problems of TTS are fetal complications such as single or double intrauterine demise, spontaneous abortion, prematurity due to uterine distension leading to contractions, preterm rupture of membranes and ultimately neurological impairment. We report a pregnancy with TTS in which rapid development of polyhydramnios led to rupture of a scarred uterus at 19 weeks' gestation. To the best of our knowledge, this is the first report of a potentially lethal maternal complication of TTS.
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PMID:Twin-to-twin transfusion syndrome complicated by spontaneous mid-trimester uterine rupture. 1500 96

Restrictive dermopathy (RD) results in stillbirth or early neonatal death. RD is characterized by prematurity, intrauterine growth retardation, fixed facial expression, micrognathia, mouth in the 'o' position, rigid and tense skin with erosions and denudations and multiple joint contractures. Nearly all 25 previously reported neonates with RD had homozygous or compound heterozygous null mutations in the ZMPSTE24 gene. Here, we report three new cases of RD; all died within 3 weeks of birth. One of them had a previously reported homozygous c.1085dupT (p.Leu362PhefsX19) mutation, the second case had a novel homozygous c.1020G>A (p.Trp340X) null mutation in ZMPSTE24, but the third case, a stillborn with features of RD except for the presence of tapering rather than rounded, bulbous digits, harbored no disease-causing mutations in LMNA or ZMPSTE24. In the newborn with a novel ZMPSTE24 mutation, unique features included butterfly-shaped thoracic 5 vertebra and the bulbous appearance of the distal clavicles. Skin biopsies from both the stillborn fetus and the newborn with c.1020G>A ZMPSTE24 mutation showed absence of elastic fibers throughout the dermis. This report provides evidence of genetic heterogeneity among RD and concludes that there may be an additional locus for RD which remains to be identified.
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PMID:Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. 2110 32