Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported. Eight cases presented as neonatal deaths, one as a stillbirth, and there were 2 midtrimester fetuses. All of the cases had ocular, otic, digital, laryngeal, and renal abnormalities. Details of the pregnancies and sibship data are also reported. The possibility of prenatal diagnosis for this syndrome is discussed.
Objective To examine the neuropathology of fetuses dying before birth, to determine the timing of any brain damage seen and to ascertain clinical associations of pre-existing brain damage.Design Population-based observational study.Setting All 22 delivery units within Scotland, 1995Scotland, -1998 Sample All stillborn fetuses ‡24 weeks of gestation excluding those with chromosomal abnormality or central nervous system/cardiothoracic malformation.Methods Clinical detail was collected on all stillborn fetuses. Requests for postmortem included separate request for detailed neuropathological examination. Stillborn fetuses were classified as full term antepartum (normal growth/growth restricted), preterm antepartum (normal growth/growth restricted), intrapartum (full term/preterm), multiple births and stillborn fetuses following abruptions. Clinicopathological correlation attempted to define the timing of brain insult. Placentas were examined for each case where available.Main outcome measures Presence of established and/or recent brain damage.Results Clinical details were available for 471 stillborn fetuses, and detailed neuropathology was possible in 191 cases. Of these 191, 13 were multiple births, 9 died following abruption, 12 were intrapartum deaths and 157 were antepartum stillborn fetuses (99 preterm and 58 full term). Recent or established brain damage was seen in 66% of the entire cohort. Thirty-five percent of all cases showed well-established hypoxic damage predating the last evidence of fetal life, and this was more common in preterm fetuses (P = 0.015), those fetuses with evidence of recent damage (P < 0.001), in pregnancies complicated by pregnancy-induced hypertension (P = 0.044) and those in whom the placenta was <10th centile (P = 0.002).Conclusions Brain damage is commonly seen in stillborn infants, and in around one-third of cases, damage predates the period immediately before death. Factors suggesting suboptimal placental function are associated with such damage. Early identification of placental impairment may lead to improved pregnancy outcome.
The purpose of the present study was to describe the pituitary gland and axial skeleton, induding the sella turcica, in human fetuses with spina bifida. Ten fetuses with gestational ages (GA) 15'/2-28 weeks were investigated radiographically (Faxitron X-ray apparatus) and immunohistochemically. Four of the fetuses have been described previously.The study showed that nine fetuses had minor or no skeletal abnormalities in the vertebral bodies of the spine, and one fetus had severely malformed vertebral bodies. In all cases the sella turcica and the pituitary gland were malformed.Dans 1'etude presente, nous nous proposons de decrire 1'hypophyse et le squelette axial, ainsi que la seIle turcique chez les foetus llUmains porteurs de spina bifida. Dix foetus d'age gestationnel (GA) entre 15,5 et 28 semaines, ont ete etudies radiographiquement (appareil Faxitron) et immUllohistochimiquement. Quatre de ces foetus ont deja ete decrits anterieurement.Cetude montre que 9 foetus ont des anomalies mineures ou pas d'anomalie du taut au niveau du squelette et des corps vertebraux du rachis. Un foetus avait quelques corps veltebraux mal formes. Dans tous les cas, la selle turcique et la glande pituitaire etaient mal formees. Dans taus les cas, lc tissu adenopituitaire etait situe, non seulement dans la selle turcique mais egalement dans la sous-muqueuse du pharYILx. Les malformations les plus severes de la seIle turcique et de la glande pituitaire ont ete trouvees chez les foetus polteurs egalement de malformations veltebrales. Il faut insistel~dans les etudes futures, sur les relations entre les malfonnations de la selle turcique et de glande pituitaire diagnostiquees en antenatal et l'etat endocrinien des enfants porteurs de spina bifida. Mots-ch:!s: Defect du tube neural -Rachis -Selle turcique -Glande pituitaire Receiveü J,Ullmry 20, 1\)98 Eur .J Pecliatr Surg \) (1~)9D) ;)54-358 © HippoI-;:rates Verlag Stuttgmi . Masson Ecliteur Paris Adenopituitary tissue was in all cases located in both the sella turcica and the pharyngeal submucosa. The mOst severe sella turcica/pituitary gland malformation was seen in the fetus with the malformed spine. The connection between the prenatally registered sella turcica/pituitary gland malformation and the endocrinological status of children with spina bifida should be emphasized in future studies.
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