Disorganisation: a model for 'early amnion rupture'?

نویسندگان

  • D Donnai
  • R M Winter
چکیده

The hypothesis of an intrinsic defect of germ plasma put forward by Streeter to explain the abnormalities observed in 'amniotic bands sequence' (ABS) was not supported by Torpin, who suggested that the bands derived from early amnion rupture, with formation of mesodermal strings and naked chorion, which then constricted or adhered to fetal parts. Recently, several authors have recorded and discussed possible mechanisms for 'non-band related' malformations in patients with otherwise typical limb constrictions and amputations. The mouse mutant disorganisation (Ds) is a semidominant with 72% of heterozygotes manifesting abnormalities, which include cranioschisis, limb duplications and deficiencies, gastro/thoracoschisis, and papillae protruding from other parts of the body. We report similar abnormalities including papillae in five fetuses and one newborn with ABS and, based on these observations and published reports, we suggest that a human homologue for Ds may be the cause of at least some examples of ABS.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Amnion rupture sequence with 'exencephaly': MR findings in a surviving infant.

The amnion rupture sequence is a heterogeneous group of congenital deformities in which rupture of the amnion occurs early in gestation. Fragments of the amnion may adhere to, or encircle and constrict, embryonic parts. This may interrupt normal morphogenesis and cause deformity or even mutilation of formed structures; large cranial defects are a common feature. In contrast to other causes of c...

متن کامل

Survival of an infant with amnion rupture sequence: a dilemma for clinicians.

Introduction Amnion rupture in early pregnancy results in severe anomalies such as anencephaly, encephalocoele, exencephaly, acrania, facial clefts and absence of limbs (1,2). Most affected fetuses abort in the second trimester, are stillborn or die soon after birth (1,3).We report an infant with amnion rupture sequence, who survived for 9 weeks after birth. A Medline search failed to reveal do...

متن کامل

The beetle amnion and serosa functionally interact as apposed epithelia

Unlike passive rupture of the human chorioamnion at birth, the insect extraembryonic (EE) tissues - the amnion and serosa - actively rupture and withdraw in late embryogenesis. Withdrawal is essential for development and has been a morphogenetic puzzle. Here, we use new fluorescent transgenic lines in the beetle Tribolium castaneum to show that the EE tissues dynamically form a basal-basal epit...

متن کامل

The Biomechanics of Amnion Rupture: An X-Ray Diffraction Study

Pre-term birth is the leading cause of perinatal and neonatal mortality, 40% of which are attributed to the pre-term premature rupture of amnion. Rupture of amnion is thought to be associated with a corresponding decrease in the extracellular collagen content and/or increase in collagenase activity. However, there is very little information concerning the detailed organisation of fibrillar coll...

متن کامل

Function and failure of the fetal membrane: Modelling the mechanics of the chorion and amnion

The fetal membrane surrounds the fetus during pregnancy and is a thin tissue composed of two layers, the chorion and the amnion. While rupture of this membrane normally occurs at term, preterm rupture can result in increased risk of fetal mortality and morbidity, as well as danger of infection in the mother. Although structural changes have been observed in the membrane in such cases, the mecha...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 26 7  شماره 

صفحات  -

تاریخ انتشار 1989