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At least 685 records · Page 38Linked to original sources
PubMed1993

Familial cases of gastroschisis in a population-based registry.

Only a few familial cases of gastroschisis have been reported. Consequently, the risk of a recurrence has been thought to be very small. In a population-based study of gastroschisis that included an extended pedigree of all probands, 6 (4.7%) out of 127 families had more than one affected relative. The relationships of the affected were: sib, half-sib (2), first cousin, second cousin once removed, and great uncle. Sib recurrence was 3.5%. Our results suggest that pregnancies occurring in a family with a history of gastroschisis may be at higher risk of recurrence than previously thought.

Abdominal Muscles↗
PubMed1993

Visceral anomalies in the Apert syndrome.

We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise.

Acrocephalosyndactylia↗
PubMed1993

de Lange syndrome: a clinical review of 310 individuals.

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Adolescent↗
PubMed1976

The embryology and surgical management of gastroschisis.

Thirteen cases of gastroschisis are presented and a reduction in the operative mortality to 15 per cent is recorded. The aetiology of the condition is discussed and the opinion expressed that it represents the result of an intra-uterine rupture of an incarcerated "hernia into the cord" rather than any specific failure of development of the abdominal wall musculature. Early skin closure and the creation of a ventral hernia remain the surgical treatment of choice, but it is recognized that the use of a prosthetic sac may occasionally be necessary. Infection is not the most important single factor influencing mortality, and the prolonged administration of prophylactic antibiotics is justified on this basis. Skilled management of the protracted ileus is essential. In view of the low incidence of serious coexistent malformations the children who survive the initial operation can be offered the prospect of a life of normal duration and quality.

Abdominal Muscles↗
PubMed1995

Management of alimentary tract duplication in children.

Duplication of the alimentary tract is rare but potentially dangerous. Five of 72 children with alimentary tract duplication treated between 1973 and 1992 died from postoperative complications; a further ten required more than one operation. Ileal duplications were the commonest, occurring in 16 patients (22 per cent). Thoracoabdominal duplications were the most complicated and responsible for much of the overall morbidity and mortality. Surgical complications were related to the size and location of the duplication, communication with the gastrointestinal tract or vertebral canal, presence of heterotopic gastric mucosa and involvement of mesenteric vessels. Complete excision of the duplication should be possible in most cases.

Adolescent↗
PubMed1995

Two different thresholds of wingless signalling with distinct developmental consequences in the Drosophila midgut.

Drosophila wingless encodes a Wnt protein which mediates communication between cells. Although wingless protein is secreted from cells, there is debate as to what is the range of wingless action. We examined the function of wingless in the larval midgut, and found that wingless acts at two different thresholds to pattern this tissue. Low wingless levels are required to promote the development of copper cells, highly differentiated midgut cells of the larval midgut that are specified by the homeotic gene labial. High wingless levels repress copper cell development and allow differentiation of an alternative cell type, called large flat cells. These two developmental outcomes reflect labial expression, which is stimulated at low levels and repressed at high levels of wingless signalling. Thus, midgut cells respond differentially to distinct wingless thresholds in terms of both gene control and cellular differentiation.

Animals↗
PubMed2005

Prenatal diagnosis of a cystic type IV sacrococcygeal teratoma mimicking a cloacal anomaly: contribution of MR.

OBJECTIVE: To report a case of pelvic midline cystic mass in a female fetus without visibility of the rectum and which is not a cloacal anomaly. METHODS: Ultrasound (US) and magnetic resonance imaging (MRI) were performed respectively at 27 and 27.5 weeks' gestation and the findings of these examinations were compared with post-mortem examination after termination of pregnancy (TOP). RESULTS: US showed a pelvic midline cystic mass in a female fetus with mild enlargement of the left ureter and renal pelvis. MRI did not show the T1 hypersignal of meconium in the rectum. The analysis of MR findings were suggestive of the diagnosis of a sacrococcygeal teratoma. Pregnancy was terminated because of the possibility of severe sphincterial disorders and the fetopathological examination confirmed this diagnosis. CONCLUSION: This observation illustrates the diagnostic problems generated by the detection of a pelvic midline cystic mass in a female fetus. The absence of visibility of the T1 hypersignal of the meconium in the rectum is traditionally supposed to be highly suggestive of a cloaca, but may also be explained by the emptiness of the rectum, compressed by the mass.

Adult↗
PubMed2001

Cooperation of endoderm-derived BMP2 and extraembryonic ectoderm-derived BMP4 in primordial germ cell generation in the mouse.

The primordial germ cells (PGCs) of the mouse are derived from proximal epiblast cells that are adjacent to the extraembryonic ectoderm during gastrulation. Previous studies have demonstrated that extraembryonic ectoderm-derived BMP4 and BMP8B are both required for PGC generation. Here we show that Bmp2, a member of the Dpp class of the Bmp superfamily, also plays a role in PGC generation. PGC number is significantly reduced in Bmp2 heterozygous and homozygous embryos at the N2 generation onto C57BL/6 background. Bmp2 homozygous embryos also have a short allantois and about 50% of them do not undergo normal chorioallantoic fusion. Using whole-mount in situ hybridization, we show that Bmp2 is primarily expressed in the endoderm of mouse pregastrula and gastrula embryos. Using a genetic approach, we further show that Bmp2 and Bmp4, but not Bmp2 and Bmp8b, have an additive effect on PGC generation. These results suggest that PGC generation in the mouse embryo is regulated not only by extraembryonic ectoderm-derived BMP4 and BMP8B, but also by endoderm-derived BMP2.

Allantois↗